Glossary for Speech symptoms

Medical terms related to Speech symptoms or mentioned in this section include:

• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $3-$: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• $3-methylglutaconic aciduria, type 1$: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
• $3C syndrome$: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $8p-Syndrome, partial$: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Aarskog-Ose-Pande syndrome: A rare disorder involving lipodystrophy mainly in the face and buttocks as well as sparse hair, retarded bone age and minor face and eye anomalies. It is considered a variant of SHORT syndrome which tends to also include increased range of joint motion and more extensive lipodystrophy.
• Abscess: This is an area of puss collected in a cavity which is constituted by necrotised tissue
• Aceruloplasminemia: A rare genetic disorder characterized by a lack of the protein ceruloplasmin in the blood resulting in a buildup of iron in the liver, brain and pancreas. This in turn causes diabetes and degeneration of the neural system causing tremors and walking abnormalities.
• Acidic dry cell batteries inhalation poisoning: Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on the amount of chemical involved.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
• Acute Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. Death is common in the acute phase of the infection which can last from four days to four months.
• Adenoid cystic carcinoma: A malignant cancer in the form of cysts which may occur in the salivary glands, breast, mucous glands of the respiratory tract and sometimes in vulval vestibular glands. Also called adeoncystic carcinoma, adenomyoepithelioma, cribriform carcinoma or cylindroma.
• Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
• Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
• Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
• Adult SMA: Form of Spinal Muscular Atrophy in adults.
• Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
• African Sleeping sickness: A disease caused by parasites (Trypanosome brucei gamiense or T. brucei rodesiense) and transmitted to humans by the tsetse fly which is found only in Africa. Causes symptoms such as fever, chills, headache, anemia, edema of hands and feet, enlarged lymph glands, lethargy, sleepiness, convulsions and coma. Also called African trypanosomiasis and sleeping sickness.
• Albinism deafness syndrome: A rare syndrome characterized by the association of deafness with partial albinism involving patches of absent pigmentation in the skin and hair. The disorder is inherited in a X-linked manner.
• Alcohol abuse: Excessive alcohol as a symptom of other conditions
• Alcohol drinking: The consumption of a drink containing alcohol. Alcohol consumption can cause varying degrees of impairment depending on the amount consumed. Consuming very large amounts of alcohol can lead to death.
• Alcohol-Induced Disorders: Disorders caused by excessive alcohol consumption. The symptoms are variable depending on the disorder involved. Some of the disorders are: alcohol abuse, alcohol dependence, alcohol intoxication, alcohol withdrawal, alcohol intoxication delirium, alcohol withdrawal delirium, alcohol-induced persisting dementia, alcohol-induced persisting amnestic disorder, alcohol-induced psychotic disorder, alcohol-induced mood disorder, alcohol-induced anxiety disorder, alcohol-induced sexual dysfunction, alcohol-induced sleep disorder, liver damage, liver cancer and esophageal cancer.
• Alexander Syndrome: Brain myelin disorder causing mental degeneration.
• Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
• Alopecia - hypogonadism - extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
• Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
• Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
• Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
• Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
• Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
• Alzheimer disease type 1: A degenerative brain disease characterized primarily by progressive dementia. Type 1 has an early onset (starts before the age of 65). It is caused by mutations in the APP gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
• Alzheimer disease type 2: A degenerative brain disease characterized primarily by progressive dementia. Type 2 has a late onset - starts after the age of 65. It is believed to be caused by a combination of genetic mutations and environmental and lifestyle factors. The condition occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
• Alzheimer disease type 4: A degenerative brain disease characterized primarily by progressive dementia. Type 4 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
• Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial: A degenerative brain disease characterized primarily by progressive dementia. The familial form is very rare and is completely inherited and has an early onset (usually in the 4th decade). It occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
• Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Alzheimer disease, familial, type 3: A degenerative brain disease characterized primarily by progressive dementia. Type 3 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
• Alzheimer's disease: A progressive degenerative disease of the brain of unknown cause
• Alzheimer's disease without Neurofibrillary tangles: A form of Alzheimer's that involves only plaques and no neurofibrillary tangles. This form tends to have an older age of onset and death and a shorter disease duration.
• Amphetamine abuse: Use of the stimulant drugs known as amphetamines or "speed"
• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
• Amyotrophic lateral sclerosis: A degenerative motor neuron disease marked by weakness and wasting of the muscles which starts at the hands and legs and spreads to the rest of the body. Death occurs in 2 to 5 years. Also called Lou Gehrig's disease or wasting palsy.
• Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
• Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
• Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
• Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
• Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
• Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
• Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
• Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
• Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
• Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
• Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
• Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
• Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
• Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Anton-Vogt syndrome: A congenital disorder where a brain anomaly results in involuntary purposeless movements (choreathetosis). Excitement and activity can make symptoms worse.
• Aphasia: inability to produce and comprehend language
• Arizona Bark Scorpion poisoning: A bite from the Arizona Bark scorpion contains chemicals toxic to the nerve system and can cause serious, life-threatening symptoms.
• Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
• Arteriovenous Malformation: Birth defect of a tangle of veins and arteries.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
• Asthma: A condition which is characterized by recurrent attacks of paroxysmal dyspnoea
• Ataxia: Failure of muscular coordination
• Ataxia - hypogonadism - choroidal dystrophy: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
• Ataxia - oculomotor apraxia, type 1: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
• Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
• Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
• Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
• Ataxia, spastic with congenital miosis: A rare disorder characterized by movement problems of the limbs as well as an impaired pupil reaction to light (miosis).
• Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
• Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
• Attention Deficit Hyperactivity Disorder: Behavioral disorder with hyperactivity and/or inattention.
• Atypical pyridoxine-dependent seizures: A form of epilepsy which responds to anticonvulsant therapy for only a period of time but are able to be managed by pyridoxine supplementation after a few months. Seizures may disappear for a few months even after pyridoxine supplementation is ceased.
• Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
• Autism: Childhood mental condition with social and communication difficulties.
• Babinski-Nageotte syndrome: A rare disorder caused by damage to a part of the brain (medullobulbar transitional area) which causes a variety of neurological symptoms, some of which affect only one side of the body.
• Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
• Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
• Barbiturate abuse: Abuse of barbiturate medications
• Basal Ganglia Disease, Adult-Onset: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Basal ganglia calcification, idiopathic 1: Abnormal calcium deposits in the part of the brain called the basal ganglia. Type 1 results in psychiatric, cognitive or neurological problems associated with the calcification. The symptoms experienced are variable.
• Basal ganglia disease, biotin-responsive: A neurological disease that affects the part of the brain called the basal ganglia. The disease responds well to biotin administration but relapses within a month if the biotin is stopped. If the condition is diagnosed late or there are recurring episodes, the patient may suffer ongoing symptoms such as paraparesis, mild mental retardation or dystonia.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
• Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
• Benign astrocytoma: Benign tumors that occur in the brain or spinal cord. Symptoms and severity depends on the location and size of the tumors.
• Benign essential tremor syndrome: A condition characterized mainly by tremor affecting usually then hands and head and the tremors may then slowly progress to other parts of the body.
• Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
• Bipolar disorder: Cycles of mania and depression; commonly called "manic-depression".
• Blue-ringed octopus poisoning: The blue-ringed octopus is found in shallow Australian ocean water and can deliver venomous, potentially fatal bite. The poison is present in the saliva of the octopus. The venom affects the neuromuscular system.
• Botulism food poisoning: Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms.
• Box Jellyfish poisoning: A sting from the Box jellyfish contains a chemical which is toxic to the nerves, heart and skin. This jellyfish is mainly found in the waters of Northern Queensland in Australia. The tentacles should not be removed from the patient as it can cause further injection of poison.
• Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
• Brain - bone - fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
• Brain Concussion: Trauma resulting in minor injury to the brain which causes a period of interrupted brain function. Simple concussions resolve themselves in about a week whereas more serious ones have persisting symptoms. The onset of symptoms may be delayed.
• Brain abscess: abscess in the brain may involve any of the lobes of the brain
• Brain conditions: Medical conditions that affect the brain
• Brain symptoms: Symptoms affecting the brain
• Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
• Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
• Bristowe's syndrome: Symptoms caused by a brain tumor that develops in the corpus callosum which connects the two brain hemispheres.
• Brown-Vialetto-Van Laere syndrome: A very rare progressive disorder characterized by nerve deafness and cranial (and sometimes spinal) nerve paralysis.
• CACH syndrome: A rare syndrome characterized mainly by childhood ataxia and reduced myelination of the cerebral nerves. Motor and mental development in the first few years of life is normal with progressive neurodegeneration occurring between 2 and 5 years of age. Fever and trauma to the head can speed up disease progression.
• CANOMAD syndrome: A rare syndrome characterized by a range of abnormalities caused by immune-mediated nerve demyelination. There is usually no loss of limb function associated with the disorder. The face, throat, mouth and eye symptoms (weakness of the muscles) usually come and go.
• Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
• California encephalitis: An uncommon mosquito born virus (California encephalitis virus) which can cause brain inflammation in humans. The severity of symptoms is variable. The incubation period can last from a few days to a week. Infants and children tend to be more severely affected than adults who sometimes have no obvious symptoms.
• Cardiomyopathy - hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
• Cardiomyopathy - hearing loss, type tRNA-LYS gene mutation: A rare inherited condition characterized by the association of cardiomyopathy and deafness.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Catamenial seizure: A type of seizure that is associated with the female menstrual cycle. It appears that flucutations in hormone levels leads to increased seizure activity in some women just before or during their menstrual cycle. Simple or complex partial seizures or generalized tonic-clonic seizures may be involved.
• Catatonic syndrome: A rare syndrome often seen in schizophrenics or associated with central nervous system disturbances or brain trauma. The symptoms tend to occur in episodes with periods of remission in between.
• Central pontine myelinolysis: A rare condition where the protective layer around brainstem nerve cells is destroyed which prevents nerve signals being transmitted properly. It generally occurs in response to a rapid change in sodium levels in the body which can be caused by treatment of various conditions or by various conditions that cause rapid sodium level changes.
• Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
• Cerebellar ataxia syndrome: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia.
• Cerebellar ataxia type 1, autosomal recessive: A slow progressing brain disorder characterized by ataxia and dysarthria.
• Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
• Cerebellar ataxia, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
• Cerebellar ataxia, infantile with progressive external ophthalmoplegia: A rare disorder characterized by cerebellar ataxia during infancy and progressive paralysis of eye muscles.
• Cerebellar degeneration, subacute: A rare disorder involving degeneration of the cerebellum and sometimes involves nearby spinal cord or brain tissue.
• Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
• Cerebral Atrophy: Wasting away of the brain.
• Cerebral Palsy: Any brain disorder causing movement disability
• Cerebral hemorrhage: Bleeding in the brain
• Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
• Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
• Ceroid lipofuscinosis, neuronal 8: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 8 is distinguished from other types by the origin of the genetic defect.
• Chemical poisoning - Acidic dry cell batteries: Acidic dry cell batteries contain toxic chemicals and eating the batteries can cause various symptoms if the chemical is released from the battery. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Acrylamide: Acrylamide is a chemical used mainly in the treatment of waste water, grout agent, paper strengthening agent and adhesive agents. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aftershave: Aftershave contains chemicals (ethyl alcohol, isopropyl alcohol) which can cause symptoms if ingested in sufficient quantities. Death from ingesting aftershave is considered unlikely. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aldicarb: Aldicarb is a carbamate pesticide used mainly as an insecticide, nematicide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Aluminum: Aluminum is a chemical used mainly for metallurgical purposes and can be found in packaging, electrical parts, vehicles, cooking utensils, construction materials and building components. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Antifreeze: Antifreeze is used in vehicles to prevent freezing or boiling over of the cooling system. The chemicals (methanol, ethylene and propylene glycol) in the antifreeze can cause severe poisoning symptoms if ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Bromide: Bromide is a chemical used for many applications - flame retardant, industrial uses, pesticides, sanitary products, fumigants, medicines, dyes, photographic solutions and water purification. Bromides act as central nervous system depressants and the ingestion of excessive quantities can cause serious symptoms. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Bromophos: Bromophos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Button batteries: Button batteries are small round, button-shaped batteries used in various products such as watches and calculators. Generally, swallowing the batteries will cause no problems unless it becomes stuck in the gastrointestinal tract. The batteries may also be shoved up the nose by children which can cause respiratory problems depending on how far the battery is pushed and how long it remains undetected. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Carbaryl: Carbaryl is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Chlorfenvinphos: Chlorfenvinphos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Chloromethane: Chloromethane is a chemical used mainly in the production of silicones as well as agricultural chemicals, butyl rubber and other products. Ingestion and other exposures to the chemical can cause various symptoms. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Chlorpyrifos: Chlorpyrifos is a chemical used mainly in as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Cologne: Colognes contain chemicals such as ethanol and isopropanol which can cause symptoms if ingested or inhaled in excessive quantities. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Coumaphos: Coumaphos is used as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be absorbed readily through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Demeton-S-methyl: Demeton-S-methyl is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Deoderant: Deoderants contain various chemicals which can cause serious symptoms if sufficient quantities are ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Depilatories: Depilatories are used to remove hair from parts of the body. They contain various chemicals which can cause serious symptoms if sufficient quantities are ingested. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Diazinon: Diazinon is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Dichlorvos: Dichlorvos is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Dicrotophos: Dicrotophos is a toxic insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Dioxathion: Dioxathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Disulfoton: Disulfoton is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Ether: Ether is a chemical used mainly as an anesthetic and industrial solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Ethion: Ethion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Fensulfothion: Fensulfothion is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Fenthion: Fenthion is a chemical pesticide used as an insecticide and avicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Gasoline: Gasoline is a chemical used as a fuel for combustion engines. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Glufosinate: Glufosinate is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hair Bleach: Hair bleach contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair bleach can continue to cause gastrointestinal damage for weeks after ingestion. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hair Dye: Hair dyes contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair dye can continue to cause damage for weeks after ingestion. Some dyes contain lead or mercury which can cause neurological problems even if low level exposure occurs over an extended period of time. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Jet Fuel-4: Jet Fuel-4 is an aviation turbine fuel used by the US military. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Malathion: Malathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Manganese: Manganese is a chemical used mainly in fertilizers, welding rods, matches, electrical coils, ceramics and animal food additives. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methidathion: Methidathion is a chemical insecticide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Methiocarb: Methiocarb is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methomyl: Methomyl is a carbamate pesticide used mainly as an insecticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Methyl Bromide: Methyl Bromide is a chemical used mainly in insecticides, fire extinguishers, wool degreasers and oil extraction. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Mouth Wash: Mouth wash contains various chemicals which can cause serious symptoms if sufficient quantities are swallowed. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Para-Dichlorobenzene: Para-Dichlorobenzene is a chemical used mainly as a pesticide, mold and mildew preventer, moth repellent and toilet deodorant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Parathion: Parathion is a chemical pesticide used as an insecticide and acaricide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Pepper Spray: Pepper Spray is a chemical used mainly in riot control. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Phosdrin: Phosdrin is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Phosphine: Phosphine is a chemical used mainly in pesticides and rodenticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Profenofos: Profenofos is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Propoxur: Propoxur is a carbamate pesticide used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Terbufos: Terbufos is a chemical pesticide used as an insecticide and nematicide. The chemical is an organophosphorus compound and ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. The chemical may be absorbed through the skin.
• Chemical poisoning - Tetraethyl Pyrophosphate: Tetraethyl Pyrophosphate is a toxic pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Trichloroethylene: Trichloroethylene is a chemical used mainly as an industrial solvent and in adhesives, lacquer, fire retardants and house cleaning solvents. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Childhood-Onset Schizophrenia: A rare early-onset form of the mental disorder called schizophrenia. Symptoms start before the age of thirteen. Symptoms usually start gradually and are often preceded by slow motor, speech and language development.
• Childhood-onset cerebral X-linked adrenoleukodystrophy: A rare genetic disorder characterized by progressive degeneration of the protective sheath around nerves resulting in increasing difficulty. The childhood cerebral form of the condition is the most severe.
• Choreoathetosis-spasticity, episodic: A dominantly inherited movement disorder characterized by episodes of involuntary movments. Symptom episodes are often triggered by fatigue, alcohol, physical exertion and stress.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2, monosomy 2p22: A rare chromosomal disorder where deletion of a portion of chromosome 2 causes various abnormalities such as deafness, intestinal problems, mental retardation and speech defects.
• Chromosome 20 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 20 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, Monosomy 8p2: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, Monosomy 8p21-pter: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosome partial trisomy 22q11q13: A rare chromosomal disorder where a portion of chromosome 22 at the location q11-q13 is triplicated instead of resulting in various anomalies.
• Chronic Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
• Chronic Viliuisk Encephaliti: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
• Chronic Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
• Chronic Vilyisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
• Chronic Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
• Classic childhood ALD: Classic severe form of ALD in boys.
• Classic migraine: Migraine is a neurological disorder that generally involves repeated headaches. Some people also have nausea, vomiting, and other symptoms. Most people with migraines do not have any warning before it occurs. However, some people have a visual disturbance called an aura before the headache starts.
• Classical pyridoxine-dependent seizures: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Cleft palate: This when there is a congenital fissure of the median line of the palate.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
• Complex partial seizure: A complex seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient has altered consciousness are called complex partial seizures. During a simple partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. These seizures usually only last a few minutes.
• Complex partial seizure disorder: Complex partial seizure disorder is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient has altered consciousness are called complex partial seizures. During a simple partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. These seizures usually only last a few minutes.
• Cone shell poisoning: A number of species of cone shells are capable of envenomating humans. The toxin is a neurotoxin and thus primarily affects the nervous system. Cone shells are found mainly in shallow waters of the Indian and Pacific oceans. The toxicity varies amongst species with some delivering a benign stink whereas others are capable of causing death. The cone snails a proboscis on the end of which is a poison-filled barb.
• Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
• Congenital Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which usually results from autoimmune dysfunction. Congenital myasthenia gravis however results from a genetic defect. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
• Congenital myasthenic syndromes: A group of genetic condition characterized by abnormal neuromuscular signals. Symptoms tend to become worse with exertion.
• Continuous spike-wave during slow sleep syndrome: A rare form of epilepsy that occurs between the ages of 3 and 7 and is diagnosed by the observation through an EEG of continuous spike and wave discharges during the slow sleep phase which is detected. The seizures often occur during sleep. Children outgrow the condition before adulthood but some of the effects of the disorder may continue longer.
• Conversion Disorder: A psychological condition where physical symptoms arise due to emotional dilemmas.
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• Corticobasal Degeneration: A rare progressive neurological disorder where parts of the brain deteriorate.
• Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
• Creutzfeldt-Jakob Disease: A very rare degenerative brain disease that can be inherited, transmitted (eg in surgical transplants using infected tissue) or as a result of genetic mutations. The condition is fatal.
• Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
• Cyclosporine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
• De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
• Deafness - lymphoedema - leukemia: A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs.
• Deficiency of Member 8 Acyl-CoA Dehydrogenace Family: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Delay in Talking: A delay in the ability of a child to speak beyond what is normal
• Delayed speech - facial asymmetry - strabismus - ear lobe creases: A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed.
• Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Delirium: Severe mental deterioration
• Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
• Developmental dysphasia, familial: A very rare syndrome characterized mainly by a speech defect where a child has difficulty developing their expressive language skills. The problem is not associated or caused by any other abnormality.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Diabetic hypoglycemia: Low blood sugar attack from insulin or diabetes medications
• Dialysis encephalopathy syndrome: A progressive brain disease that occurs in some patients who undergo chronic hemodialysis. Aluminium intoxication is believed to play a role in the disease.
• Difficulty speaking: Where one has a problem with communicating through speech
• Difficulty talking: Where ones has a problem with communicating through speech
• Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
• Down's Syndrome associated Alzheimer's disease: Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Dykes-Markes-Harper syndrome: A very rare syndrome characterized mainly by dry, scaly skin, enlarged liver and spleen and a incoordination.
• Dysarthria: Imperfect articulation of speech
• Dysphasic dementia, hereditary: An inherited form of dementia caused by nerve degeneration.
• Dysphonia, chronic spasmodic: A speech disorder which sounds like stuttering and is caused by abnormal vocal cord movement.
• Dystonia: A neurological disorder involving involuntary sustained muscle contractions.
• Dystonia 1, Torsion, Autosoma Dominant: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
• Dystonia 12: A very rare syndrome involving the early start of symptoms of dystonia and parkinsonism. The onset of the symptoms usually occurs suddenly over weeks or even hours and then progresses slowly.
• Dystonia Musculorum Deformans 1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
• Dystonia musculorum deformans type 1: A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first.
• Dystonia musculorum deforms 4: A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary movements.
• Dystonia with cerebellar atrophy: A recessively inherited movement disorder (dystonia) which responds poorly to Levodopa treatment and involves wasting of part of the brain.
• Déjerine-Roussy syndrome: A rare neurological condition where damage to the part of the brain that controls sensation (thalamus) is damaged causing excessive pain in response to mild stimulation or reduced sensation.
• Early-onset Alzheimer's: Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• East African Trypanosomiasis: East African sleeping sickness from the tsetse fly
• Ectodermal dysplasia - alopecia - preaxial polydactyly: A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair.
• Ectodermal dysplasia - blindness: A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities.
• Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant: An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder.
• Elapid poisoning: Sea snakes, Kraits and cobras are from the Elapid group of snakes. The toxicity of the venom varies depending on the species. The venom is usually toxic to the nerves or heart. Early symptoms such as drowsiness can occur within 30 minutes with more severe symptoms developing over the next few hours. Severe envenomation can result in death within hours.
• Elephant's-ear poisoning: The Elephant's ear is a common garden plant which has large, heart-shaped leaves on long stalks. The plant contains calcium oxalate and saphotoxin which can cause poisoning if eaten and irritation upon contact with skin or eyes. The toxins are quite poisonous and death can occur if sufficient quantities are eaten.
• Encephalophathy recurrent of childhood: A recurring form of brain disease that has been noted to occur within families. The condition appears to be inherited in an autosomal dominant manner in these families. Symptoms tend to have a recurring nature and can last for periods of days to weeks. The condition is believed to be an inherited predisposition with underlying immunological or metabolic problems which trigger the condition.
• End Stage Liver Failure: Late stage of liver failure characterised by the onset of mental and neurological symptoms, due to build up of toxic metabolites.
• Ependymoma: A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor.
• Epilepsy with myoclonic-astatic crisis: A form of childhood epilepsy which is associated with a sudden loss of muscle tone which often results in the sufferer falling over and possibly injuring themselves.
• Epilepsy, Pyridoxine-Dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Epilepsy, progressive myoclonic 3: A genetic disorder involving the early onset of progressive myoclonic epilepsy. The infant develops normally for the first year or so of life and the seizures start usually before the age of two. Once the seizures start, neurological degeneration begins.
• Epilepsy, pyridoxin-dependent: A form of epilepsy which responds to pyridoxine hydrochloride administration and not to standard anticonvulsant medication.
• Episodic ataxia syndrome: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes.
• Episodic ataxia, type 1: A rare genetic disorder characterized by episodes of incoordination and unsteadiness and continuous muscle movement (myokymia). Stress and exertion may trigger the ataxic episodes which usually last for only a few minutes and can occur several times a day. Type 1 is caused by a defect in the potassium channel gene on chromosome 12p13.
• Episodic ataxia, type 2: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Type 2 is caused by a defect in the calcium ion gene on chromosome 19p13.
• Episodic ataxia, type 5: A rare genetic disorder characterized by episodes of incoordination, unsteadiness and seizures. Stress and exertion may trigger the episodes. Type 5 is caused by a defect on chromosome 2q22-q23.
• Episodic ataxia, type 6: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes which tend to last for about half an hour. Type 6 is extremely rare and is caused by a defect on chromosome 5p13.
• Erythrokeratodermia ataxia: A rare inherited condition characterized by skin and nervous system disorders
• Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
• Eucalyptus Oil poisoning: Eucalyptus oil can be used for medicinal purposes but excessive ingestion can cause problems. Likewise, eating the leaves of the eucalyptus plant (very unlikely) can also cause poisoning symptoms.
• FACWA syndrome: A rare progressive neurological disorder involving degeneration of part of the brain (basal ganglia) and muscle wasting.
• FOSMN syndrome: A rare neurodegenerative disorder that starts in the face and spreads to the scalp and upper body. The condition progresses slowly.
• Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
• Familial Forms of Alzheimer's Disease: Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour. Familial forms of the disease tend to run in families and are linked to mutations on various genes. Chromosome 1, 14 19 and 21 are the main chromosomes where mutations resulting in Alzheimer's are located..
• Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
• Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
• Familial isolated deficiency of vitamin E: A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed.
• Familial porencephaly: A very rare developmental abnormality that tends to run in families and is characterized by a localized accumulation of cerebrospinal fluid in the brain. The severity of symptoms is determined by the size and location of the brain abnormality.
• Fatal familial insomnia: A very rare inherited brain disease that severely affects sleep and causes progressive deterioration of mental and movement functions.
• Fazio-Londe syndrome: A rare inherited motor neuron disease characterized by progressive muscle weakness which ultimately leads to premature death.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fir Club Moss poisoning: Fir Club Moss is a creeping evergreen plant that grows close to the ground and contains a toxic substance called huperzine A. The plant is found in warmer climates. The severity of symptoms depends on the amount ingested.
• Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Focal seizure: A focal seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. During a focal seizure, movement, sensations, feelings or emotions may be affected. Focal seizures may spread to other parts of the brain and are then called generalized focal seizures. Focal seizures where the patient stays conscious are called simple focal seizures. If the patient loses consciousness then the seizure is called a complex focal seizure. Epilepsy is usually a focal seizure.
• Foix-Chavany-Marie syndrome: A rare condition causes weakness or mild paralysis of certain face and jaw muscles. The condition usually occurs when the blood supply to certain parts of the brain are interrupted eg blood clot.
• Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
• Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
• Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
• Friedreich ataxia - congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
• Friedreich's ataxia: Progressive muscle weakness from nerve damage.
• Frontotemporal dementia: A degenerative brain disease involving frontal and temporal brain lobes resulting in dementia. Degeneration of the frontal lobe causes behavioral and personality changes degeneration of the temporal lobe causes semantic dementia.
• Frostbite: damage to skin, soft tissues and blood vessels due to extreme cold
• Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
• Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
• Ganglioglioma: A type of tumor that develops in the central nervous system. The tumor originates from glial and nerve cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
• Gangliosidosis GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Generalized Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease resulting from autoimmune dysfunction. In generalized myasthenia gravis weakness develops mainly in the limbs and trunk. The severity of symptoms may vary amongst patients. Most patients suffer increased severity of symptoms during the day with improvement after sleeping.
• German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
• Gerstmann's Syndrome: Brain defect causing various cognitive problems.
• Ghosal syndrome: A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
• Glioblastoma: An aggressive primary brain tumour of the glial (supporting) cells.
• Glioma: A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of the tumor.
• Gliomatosis cerebri: A rare, aggressive type of malignant brain tumor. Cancerous glial cells infiltrate various parts of the brain and can result in a variety of symptoms.
• Gliosarcoma: A type of brain tumor that originates from glial cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
• Glue ear: A condition which affects the ear and is characterized by a chronic accumulation of the fluid leading to a loss of hearing
• Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
• Gluten ataxia: Ataxia that apparently results from a sensitivity to gluten which is found in grains such as wheat and barley.
• Grand-Kaine-Fulling syndrome: A very rare syndrome characterized by disease of the retinal blood vessels and degeneration of the central nervous system.
• Granulomatous Angiitis of the Central Nervous System: Inflammation of blood vessels in the central nervous system (brain and spinal cord). The condition tends to recur.
• Growth delay - mental retardation - mandibulofacial dysostosis - microcephaly - cleft palate: A rare syndrome characterized by delayed growth, mental retardation, small head, cleft palate and facial and jaw anomaly.
• HERNS syndrome: A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected.
• Hallervorden-Spatz disease: Nerve disorder causing movement problems.
• Heidenhain syndrome: A form of premature dementia caused by degeneration of the brain. It is considered a variant of Creutzfeldt-Jakob disease. Heidenhain syndrome is characterized mainly by eye problems whereas Creutzfeldt-Jakob predominantly involves ataxia.
• Hemiplegic migraine, familial type 2: A rare inherited form of migraine that characteristically causes temporary paralysis on one side of the body and involves the presence of an aura. A migraine episode may be triggered by minimal trauma to the head. The severity of the disorder is variable with some patients experiencing problems for days. Triggers include tiredness, heat, stress and head injury.
• Hemoglobin S/hemoglobin Lepore, Boston: A blood disorder that mainly causes hemolytic anemia with great variability of symptoms.
• Hemoglobin S/hemoglobin O, Arab: A genetic blood anomaly which causes severe hemolytic anemia, fever, pain, cramping and excessive bleeding.
• Hemoglobin SC: A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable.
• Herbal Agent adverse reaction - Sassafras Oil: Sassafras Oil can be used as a herbal agent to treat skin irritation such as insect bites. The herbal agent contains a chemical called safrole which can cause harmful effects if ingested .
• Herbal Agent overdose - Rhubarb: Rhubarb can be used as a herbal agent to treat constipation. Excessive intake of rhubarb can result in overdose symptoms.
• Hereditary Congenital Facial Paresis: Hereditary Congenital Facial Paresis is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. There are two subtypes which differ in the origin of the genetic defect: type I is caused by a defect on chromosome 3q and type II is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
• Hereditary Congenital Facial Paresis 2: Hereditary Congenital Facial Paresis II is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 10q. The facial paralysis may affect one or both sides of the face.
• Hereditary Congenital Facial Paresis I: Hereditary Congenital Facial Paresis I is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis. It is linked to a genetic defect on chromosome 3q. The facial paralysis may affect one or both sides of the face.
• Hereditary Spastic Paraplegia: A slow-progressing degeneration of the tract that connects the brain to the spinal cord (corticospinal tract) resulting in muscle spasticity, weakness and paralysis. The severity of symptoms is determined by the nature and extent of the damage.
• Hereditary ataxia: Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and/or of the spine
• Hereditary hypothyroidism: Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone.
• Hereditary paroxysmal cerebral ataxia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from minutes to days.
• Hereditary sensory and autonomic neuropathy 3: A very rare inherited disorder affecting the peripheral and autonomic nervous system and characterized by reduced tear production, excessive sweating, poor body temperature control, blood pressure problems, impaired sensation and poor muscle control.
• Histidinemia: A metabolic disorder where there is a deficiency of the histidase enzyme which is needed to metabolise the amino acid called histidine. Histidine levels then buildup of histidine in the blood and urine.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
• Horseshoe Crab poisoning: The Asiatic horseshoe crab is eaten mainly in parts of Asia. Various parts of the crab become toxic during the reproductive season - flesh, unlaid green eggs and viscera. Poisoning most often occurs in Thailand. Eating the crabs should be avoided during reproductive season as poisoning can readily result in death.
• Howard-Young syndrome: A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Huntington's disease: Inherited disease causing progressive mental deterioration.
• Hydroxyacyl-coa dehydrogenase, type 2, deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Some cases simply involve developmental delay.
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
• Hypersomnia: increased need of sleep
• Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
• Hypoglycemia: Low blood sugar levels
• Hypomagnesemia primary: Low blood magnesium levels which is caused by the abnormal absorption and excretion of the mineral and can be caused by such things as kidney problems and intestinal malabsorption.
• Hypomyelination - congenital cataract: A rare syndrome characterized by the association of congenital cataract with progressive neurological impairment due to progressive demyelination.
• Hypomyelination - hypogonadotropic hypogonadism - hypodontia: A rare syndrome characterized by delayed puberty, missing teeth and reduced myelination which causes progressive ataxia.
• Hypomyelination and congenital cataract: An inherited disorder characterized by congenital cataract and progressive neurological impairment due to reduced myelination of nerves.
• Hypothyroid goitre: Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body.
• Hypothyroidism: The decreased activity of the thyroid gland
• Hysteria: hysteria describes a state of mind, one of unmanageable fear or emotional excesses
• Ichthyosis - alopecia - eclabion - ectropion - mental retardation: A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips.
• Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Idiopathic dystonia DYT1: A rare movement disorder where the patients suffers uncontrollable muscle contractions and distortion of body position. The limbs are usually involved first and then the condition spreads to other parts of the body.
• Idiopathic facial palsy: Weakness or paralysis of the facial muscles that occurs for no apparent reason. The condition is usually temporary and tends to resolve itself with the majority recovering fully within three weeks and the rest within a year. Usually only one side of the face is affected.
• Idiopathic hypereosinophilic syndrome: A rare blood disorder where the bone marrow produces too many eosinophils over a long period of time which can cause organ or tissue damage. The disorder can affect and part of the body but most often affects the skin, heart and nervous system. The increased eosinophil production continues for a long period of time (at least 6 months) and there is no apparent cause.
• Impairment of oral perception: A rare disorder where the mouth lacks the ability to detect sensations which affects oral function.
• Inability to speak: Inability to speak (mutism)
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Inborn errors of thyroid hormone synthesis related to hypothyroidism: Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.
• Incoherent speech: Where a persons speech cannot be understood
• Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• Inhalant abuse: Inhalant abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Inhalants include gasoline, adhesives, solvents, and aerosols. These inhalants can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Inhalant addiction: Inhalant addiction refers to the compulsive need to abuse inhalants (e.g. inhaling them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Inhalants are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Inhalants includes glues, shoe polish, household cleaners, room deodorizers and nail polish removers.
• Intestinal pseudo-obstruction: A digestive disorder where the intestines are unable to contract normally and push food through the digestive system. This results in symptoms similar to an obstruction and hence the name pseudo-obstruction. The walls of the affected gastrointestinal tract becomes thin and the muscles that control its motion start to degenerate.
• Isobutyric aciduria: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
• Isobutyryl-coenzyme A dehydrogenase deficiency: An extremely rare genetic condition where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine.
• Isoniazid toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Jankovic-Rivera syndrome: A rare inherited syndrome characterized by involuntary muscle jerking and progressive muscle wasting in the hands and feet.
• Juvenile Myasthenia Gravis: Myasthenia gravis is a chronic neuromuscular disease which results from autoimmune dysfunction. Juvenile myasthenia gravis also has autoimmune origins and tends to develop during childhood. Symptoms tend to become worse during the day with activity and improve after rest or after sleeping. The severity of symptoms may vary.
• Juvenile pilocytic astrocytoma: A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may vary depending on the size and location of the tumor.
• Juvenile primary lateral sclerosis: A very rare genetic disorder characterized by increasing weakness and stiffness of the muscles in the arms, legs and face due to damage to nerve cells that control motor movement.
• Katayama fever: An acute disease due to infection with Schistosoma parasites. Transmission can occur through contact with infected waters.
• King Cobra poisoning: The King Cobra is a large venomous snake usually found in southeast Asia and India. Most bites from this snake results in envenomation due to the ferocity of their bite. The poison primarily affects the neuromuscular system but can also affect blood clotting.
• Kleine-Levin Syndrome: A rare disorders marked by episodes of enormous eating and sleeping with increased dependence or aggressiveness. In between, episodes, the person is generally normal.
• Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
• Kocher-Debre-Semelaigne syndrome: A rare condition characterized by pseudohypertrophy of muscles that occurs in patients with hypothyroidism.
• Kuru syndrome: A rare fatal disease that has been noted in a Eastern New Guinean tribe. It is believed to be prevalent in this tribe due to their history of cannibalism.
• L1 Syndrome: L1 Syndrome refers to range of disorders characterized by stiff muscles (spasticity) in the legs, reduced intelligence, excessive fluid in the brain (hydrocephalus) and abnormally bent thumbs. The range and severity of symptoms is highly variable. Disorders which varying forms of L1 Syndrome includes MASA syndrome, X-linked Corpus Callosum agenesis and X-linked Mental Retardation Complicated Hereditary Spastic Paraplegia type 1. The condition tends to produce mild if any symptoms in females in nearly all cases.
• Lafora disease: A rare genetic disorder caused by the inclusion of a substance called Lafora bodies in cells throughout the body. The condition is progressive and causes progressive seizures and dementia.
• Landau-Kleffner Syndrome: A neurological disorder which results in aphasia, epileptic seizures and inability to recognize sounds.
• Late-onset Alzheimer's: Late-onset Alzheimer's is a form of Alzheimer's disease that doesn't appear to be linked to any genetic defects or familial pattern. It is by far the most common form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Lhermitte-Cornil-Quesnel syndrome: A rare disorder characterized by the slowly-progressive degeneration of a part of the brain (pyramidal tract and globus pallidus).
• Lhermitte-McAlpine syndrome: A type of neurodegenerative disorder that involves pyramidal and extrapyramidal symptoms. It can occur in middle-aged or old people and usually results in death within a year of onset.
• Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
• Lissauer paralysis: Diffuse degeneration of one side of the cerebral cortex which causes dementia, weakness and seizures.
• Locked-in Syndrome: A rare neuromuscular disorder involving total paralysis of voluntary muscles except for the eye muscles.
• Loss of speech: The loss of ones ability to communicate through speech
• Low birth weight - dwarfism - dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
• Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
• Lymphoedema - atrial septal defects - facial changes: A rare inherited syndrome characterized by lymphoedema of the legs at birth, heart defects and facial anomalies.
• MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
• MN1: A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
• MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Macroglossia: An enlarged tongue out or proportion to the size of the mouth.
• Macrogyria, pseudobulbar palsy and mental retardation: A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.
• Marchiafava-Bignami disease: A progressive syndrome associated with alcohol abuse and/or nutritional disorder. It is characterized by fits, stupor, dementia and coma.
• Marie type ataxia: An inherited brain disorder that affects muscle coordination.
• Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
• Marinesco-Sjogren-like syndrome (MSLS): A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
• Marinesco-Sjögren I: A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities.
• Medulloblastoma: A type of brain tumor.
• Meinecke syndrome: A very rare syndrome characterized mainly by mental retardation and short broad thumbs.
• Melanoma - astrocytoma syndrome: A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor.
• Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
• Meningioma: A slow-growing tumor of the meninges that is not cancerous. Symptoms are determined by the size and location of the tumor.
• Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - coloboma - slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.
• Mental retardation - hip luxation - G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
• Mental retardation - hypotonic facies syndrome, X-linked, 1: A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities.
• Mental retardation - short broad thumbs: A very rare syndrome characterized mainly by mental retardation and short, broad thumbs.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation X-linked, South African type: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation.
• Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
• Mental retardation, X-linked - acromegaly - hyperactivity: A rare syndrome characterized mainly by mental retardation, hyperactivity and enlarged hands, feet and testes.
• Mental retardation, X-linked - choreoathesis - abnormal behavior: A rare X-linked disorder characterized by mental retardation, abnormal behavior and a movement disorder. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked - dystonia - dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).
• Mental retardation, X-linked - gynecomastia - obesity: A rare disorder characterized by mental retardation, obesity, enlarged male breasts, speech problems and other anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked - seizures - psoriasis: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Mental retardation, X-linked syndromic 12: A syndromic form of mental retardation which also involves mutism, retarded growth, seizures and frequent infections. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect is located on chromosome Xp11.
• Mental retardation, X-linked with brachydactyly and macroglossia: A syndromic form of mental retardation which also involves short digits and an enlarged tongue. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, 12: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect on chromosome Xp11.
• Mental retardation, X-linked, 16: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the MECP2 gene on chromosome Xq28. Females tended to be affected as well as males although to a lesser degree.
• Mental retardation, X-linked, 17: A rare form of non-syndromic mental retardation inherited in a X-linked manner. It occurs as a result the duplication of a small portion of genetic material on chromosome Xp11.22. Females tended to be affected as well as males although to a lesser degree.
• Mental retardation, X-linked, Cabezas type: A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect occurs on chromosome Xq24.
• Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, Zorick type: A rare disorder characterized by mental retardation and muscle disease. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mental retardation, X-linked, syndromic, due to JARID1C mutation: A rare disorder characterized by mental retardation, spasticity and other variable features. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The disorder is caused by a defect on the JARID1C gene on chromosome Xp11.22-p11.21.
• Mercury poisoning - Folk Remedies: Various folk remedies and medicines contain inorganic mercury and mercury salts. They can lead to mercury poisoning and severe cases can result in death. Children tend to be more sensitive to the effects of mercury poisoning than adults. Even low levels of exposure can cause neurological symptoms in infants and young children. Fetal exposure to mercury can also result in symptoms.
• Mercury poisoning - consumption of contaminated fish: Eating fish contaminated with mercury can lead to mercury poisoning in humans. The severity and range of symptoms experienced can vary greatly depending on the level and duration of exposure. Severe poisoning can lead to death. Pregnant women who eat mercury contaminated fish may give birth to infants who suffer symptoms such as ataxia, tremors, seizures, mental retardation and cerebral palsy. An epidemic was reported where hundreds of Japanese villagers suffered mercury poisoning after eating fish contaminated by a nearby factory. Nearly half of the victims eventually died and children born during that period suffered a variety of neurological problems.
• Metachromatic Leukodystrophy: An inherited biochemical deficiency involving a deficiency of the enzyme called arylsulfatase A which leads to a harmful buildup of fatty material in the body.
• Metastatic nervous system cancer: CNS metastases are traditionally viewed as a late complication of systemic disease, for which few effective treatment options exist.
• Methylmalonicacidemia with homocystinuria, cbl D: An inherited organic acid disorder where an enzyme deficiency (cblD) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microcephaly - deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
• Microcephaly, primary autosomal recessive: A rare, recessively inherited condition characterized by a small head. The 6 forms of this condition differ with respect to the origin of the genetic defect involved. The size of the brain often reduces in size with age with many cases resulting in death before the age of 30 years.
• Microcephaly, primary autosomal recessive, 1: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 1 occurs on chromosome 8p.
• Microcephaly, primary autosomal recessive, 2: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 2 occurs on chromosome 19q13.1-13.2.
• Microcephaly, primary autosomal recessive, 3: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 3 occurs on chromosome 9q34.
• Microcephaly, primary autosomal recessive, 4: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 4 occurs on chromosome 15q15-q21.
• Microcephaly, primary autosomal recessive, 5: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 5 occurs on chromosome 1q31.
• Microcephaly, primary autosomal recessive, 6: A rare, recessively inherited condition characterized by a small head. The genetic defect involved in type 6 occurs on chromosome 13q12.2.
• Microencephaly: Small brain. The condition is often characterized by a small head and neurological problems. The type and severity of symptoms are variable.
• Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
• Migraine: Severe complex headaches that occur periodically
• Minamata disease: Ingestion of seafood containing methylmercury can result in neurological toxicity symptoms.
• Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Mobius syndrome: Type of facial paralysis.
• Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Moebius axonal neuropathy - hypogonadism: A very rare syndrome characterized mainly by facial paralysis due to problems with 6th and 7th nerve development (Moebius sequence) and hypogonadism.
• Moebius sequence: A rare genetic disorder characterized by facial paralysis due to problems with 6th and 7th nerve development.
• Mohave Rattle snake poisoning: The Mohave rattle snake is a poisonous snake found mainly in Mexico and south-western areas of the US. The type of venom in Mohave snakes varies amongst species. Those with Type A venom tend to affect the nervous system whereas those with Type B venom primarily affect the blood and tissues. Type A tends to be more toxic than type B. Children tend to suffer more severe symptoms due to their smaller body size.
• Motor neuron diseases: Any of various disorders of the "motor neurons", nerves that control movement.
• MoyaMoya disease 1: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 1 is caused by a genetic defect on chromosome 3p26-p24.2.
• MoyaMoya disease 2: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 2 is caused by a genetic defect on chromosome 17q25.
• MoyaMoya disease 3: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia). Type 3 is caused by a genetic defect on chromosome 8q23.
• Moyamoya Syndrome: A very rare disorder involving progressive blocked arteries at the base of the brain (basal ganglia).
• Moyamoya disease: Brain blood vessel disorder.
• Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
• Multiple system atrophy: A rare disorder where nerve degeneration causes progressive neurological problems involving the central and autonomic nervous system. The rate of progression is variable.
• Muscle phosphoglycerate kinase deficiency: An inherited genetic muscle disease where an enzyme deficiency (phosphoglycerate kinase) affects the normal processes that convert carbohydrates from food into energy.
• Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
• Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
• Myasthenia Gravis with Thymus Hyperplasia: Myasthenia gravis is an autoimmune neuromuscular disease which is often associated with an abnormal thymus. The relationship between the thymus and myasthenia is not fully understood but as the thymus is involved in the body's immune system, it may trigger the immune system abnormality underlying some cases of myasthenia gravis.
• Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency: A genetic, nonprogressive neuromuscular disorder causing muscle weakness. The severity of symptoms is variable and stress and illness can exacerbate symptoms.
• Myelinopathies: Disorders where the protective myelin sheath around nerves is destroyed which affects the transmission of nerve signals. The severity of symptoms is determined by the degree of myelin destruction and the nerves affected. Multiple sclerosis is an example of a myelin sheath disease.
• Myoclonus: Contraction of a single muscle or muscle groups.
• Myoclonus hereditary - progressive distal muscular atrophy: A rare inherited disorder characterized by myoclonus and progressive distal muscle weakness and wasting.
• Myoclonus, cerebellar ataxia, deafness: A very rare inherited condition characterized by progressive deafness followed by neurological symptoms such as seizures and incoordinated movements.
• Myopathy and diabetes mellitus: A very rare syndrome characterized mainly by muscle disease and diabetes mellitus. The condition was highly variable with respect to the severity, range and onset of symptoms.
• Myxedema: The most severe form of hypothyroidism characterized by swelling of extremities and face.
• Möbius syndrome: Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Narcolepsy: Narcolepsy is characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis.
• Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
• Nephthytis poisoning: Nephthytis is vine with heart-shaped leaves with distinctive light-colored veins. The plant contains calcium oxalate crystals which can cause various symptoms if ingested. The damage is usually caused by the abrasive action of the crystals. Eye exposure can also cause eye irritation.
• Neuroaxonal dystrophy - renal tubular acidosis: A very rare syndrome characterized mainly by muscle and kidney abnormalities.
• Neuroferritinopathy: A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Neuroferritinopathy (adult-onset basal ganglia disease): A rare disorder where a genetic mutation results in a neurological disease resulting from abnormal iron and ferritin deposits in the brain.
• Neurofibromatosis syndrome: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuroleptic malignant syndrome: A severe, potentially fatal reaction to antipsychotic drugs.
• Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
• Neurosarcoidosis: A rare disorder involving sarcoidosis of the nervous system. Sarcoidosis is a chronic inflammatory disorder that can affect virtually any part of the body. Neurosarcoidosis involves inflammation and abnormal deposits in parts of the nervous system including the brain and spinal cord which affects their functioning. Symptoms may be sudden and severe or may be mild and progress slowly. Symptoms are determined by the degree of nerve involvement.
• Neurosyphilis: Syphilis affecting the nervous system.
• Nielsen-Jacobs syndrome: A rare condition where damage to the part of the brain called the cingulated gyri results in agnosia, apraxia and aphasia. The cingulated gyri is responsible for emotions, memory, learning and processing skills.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Non-lissencephalic cortical dysplasia: A brain development abnormality characterized by the development of small brain convolutions that generally cause mental retardation. Symptoms depend on the location and extent of the abnormality.
• Nonaffective Psychosis: Any mental disorder that is characterised by a significant derangement of ones personality and a loss of ones touch with reality
• Octopus poisoning: Octopus bites are quite rare but octopus such as the blue-ringed octopus can deliver quite a venomous bite.
• Oculodentoosseous dysplasia dominant: A very rare dominantly inherited syndrome characterized mainly by eye, tooth and finger abnormalities.
• Olivopontocerebellar Atrophy: A group of diseases progressive degeneration occurs in a particular area of the brain (olivopontocerebellar area) which results in various neurological symptoms.
• Olivopontocerebellar Atrophy, Hereditary: A group of rare, inherited, neurodegenerative conditions characterized by progressive problems with balance, coordination of voluntary movements and speech. The rate of progression varies amongst patients.
• Olivopontocerebellar atrophy I: A disorder where degeneration of certain parts of the brain and spinal cord and results in symptoms such as muscle problems, chorea and speech disturbance.
• Olivopontocerebellar atrophy type IV: A rare group of disorders caused by degeneration of certain specific parts of the brain (cerebellum, pons, inferior olives) and resulting in symptoms such as balance problems, loss of coordination and difficulties with speaking.
• Opsoclonus Myoclonus: Condition with involuntary muscle and eye movement.
• Optic atrophy - ophthalmoplegia - ptosis - deafness - myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Optic atrophy 2: An early onset form of progressive optic nerve dysfunction which results in impaired vision. Neurological symptoms are usually present and vision loss progresses very slowly. The disorder is caused by a genetic defect (Xp11.4-p11.21).
• Oral submucous fibrosis: A rare disorder involving inflammation and progressive fibrosis of tissues inside the mouth. The condition starts with redness, blistering and ulceration inside the mouth that is eventually replaced with stiff fibrous tissue as it heals. The inside of the mouth can become stiff and hinder oral functions such as eating, speaking and even opening the mouth. Even the pharynx may occasionally be involved. The condition can become cancerous. The disorder is often associated with chewing betel nuts in Asian and Indian areas.
• Oral-facial cleft: A birth defect involving an opening or cleft in the upper lip as well openings or clefts in the soft or hard palate (roof of the mouth)
• Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
• Oromandibular-limb hypogenesis spectrum: A rare disorder characterized by a spectrum of disorders.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Pallidopyramidal syndrome: A rare disorder characterized by pyramidal signs and parkinsonism caused by a degeneration of the pyramidal tract and the part of the brain called the pallidum.
• Pantothenate kinase-associated neurodegeneration: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system.
• Paraneoplastic cerebellar degeneration: Disorders of the cerebellum associated with tumors. The cerebellum is the part of the brain that controls coordination. It is believed that the body's immune system's attempt to destroy the tumor results in damage to the cerebellum. The main tumors associated with this condition include lung and breast cancer, Hodgkin's lymphoma and reproductive organ tumors.
• Paraplegia - brachydactyly - cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Parenchymatous cortical degeneration of cerebellum: Progressive deterioration of the superficial layer of the cerebellum in the brain resulting in various neurological symptoms. The condition may be inherited or be associated with conditions such as cancer and alcoholism.
• Parkinson disease 10 (PARK10): Type 10 Parkinson disease is linked to a genetic mutation on chromosome 1p32. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 11 (PARK11): Type 11 Parkinson disease is linked to a genetic mutation on chromosome 2q21.2. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 12 (PARK12): Type 12 Parkinson disease is linked to a genetic mutation on chromosome Xq21-q25. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 13 (PARK13): Type 13 Parkinson disease is linked to a genetic mutation on chromosome 2p12. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 3: A genetic form of Parkinson disease which involves progressive degeneration of the central nervous system.
• Parkinson disease 3, autosomal dominant Lewy body (PARK3): Type 3 Parkinson disease is linked to a genetic mutation on chromosome 2p13. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 4, autosomal dominant Lewy body (PARK4): Type 4 Parkinson disease is linked to a genetic mutation on chromosome 4q21. This form of the condition tends to start around the age of 45 years and progresses rapidly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 5 (PARK5): Type 5 Parkinson disease is linked to a genetic mutation on chromosome 4p14. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 7, autosomal recessive early-onset (PARK7): Type 7 Parkinson disease is linked to a genetic mutation in the DJ1 gene on chromosome 1p36. This form of the condition tends to start before the age of 40 years and progresses slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 8 (PARK8): Type 8 Parkinson disease is linked to a genetic mutation on chromosome 1p32. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 9: A genetic form of Parkinson disease (a progressive degeneration of the central nervous system) that progresses rapidly once it starts. Dementia, spasticity and eye movement problems are also characteristic of this form of Parkinson disease.
• Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease, familial, type 1 (PARK1): Type 1 familial Parkinson disease is linked to a genetic mutation on chromosome 4q21. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson's Disease: Degenerative brain condition characterised by tremor.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Partial seizure: A partial seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. During a partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. Partial seizures where the patient stays conscious are called simple partial seizures. If the patient loses consciousness then the seizure is called a complex partial seizure. Epilepsy is usually a partial seizure.
• Partington-Anderson syndrome: A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.
• Passos-Bueno syndrome: A very rare syndrome characterized by mental retardation, reduced muscle tone, incontinence, muscle wasting and inability to walk or speak.
• Peace lily poisoning: Peace lily is a herbaceous plant which has large tapering leaves and bears small flowers on a long stalk surrounded by a white spathe. The plant is often used indoors or outdoors as an ornamental plant. The plant contains calcium oxalate crystals which can be poisonous if large quantities are eaten.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pellagra-like syndrome: A rare disorder where the body is unable to metabolise tryptophan which causes a distinctive skin rash and neurological symptoms.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Perisylvian syndrome: A very rare nerve disorder characterized by weakness or paralysis of face, jaw tongue and throat muscles. Other symptoms include seizures, delayed development and mental retardation.
• Phenytoin toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
• Phosphoribosylpyrophosphate synthetase superactivity: A rare X-linked metabolic disorder caused by the excessive activity of a particular enzyme (Phosphoribosylpyrophosphate synthetase). The main manifestations are increased production of uric acid and purine nucleotide.
• Pick's Disease: Degenerative dementia condition.
• Pick's disease of the brain: A degenerative brain disease involving the frontal and temporal brain lobes resulting primarily in progressive dementia and loss of motor and language functions. It is characterized by the presence of proteins called Pick bodies in damaged nerve cells.
• Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
• Poikilodermatomyositis - mental retardation: A very rare syndrome characterized mainly by mental retardation , muscle inflammation and weakness and pigmentation abnormalities.
• Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
• Porencephaly: A central nervous system disorder involving cysts in the brain cortex caused by stroke, infection or genetic anomaly.
• Primary Lateral Sclerosis: A neurological disorder involving the upper motor nerves and causing progressive muscle weakness in the extremities and facial area. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
• Primary angiitis of the central nervous system: Inflammation of blood vessels that affect the central nervous system (brain and spinal cord). There are three main types within this category: benign angiitis of the central nervous system (BACNS), granulomatous angiitis of the central nervous system (GACNS) and atypical primary angiitis of the central nervous system (atypical ACNS). Symptoms vary depending on which particular type is involved and which part of the central nervous system is involved.
• Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
• Prion diseases: Various diseases caused by abnormal proteins (prions) in the brain.
• Progressive Multifocal Leukoencephalopathy: Progressive degenerative condition of the brain.
• Progressive Spinobulbar muscular atrophy: Genetic disease affecting nerves and muscles
• Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
• Progressive supranuclear palsy, atypical: A rare progressive neurodegenerative disorder which starts involves features of parkinsonism and dementia.
• Proximal spinal muscular atrophy, proximal, Adult, autosomal recessive: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Proximal spinal muscular atrophy, type 4: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Proximal spinal muscular atrophy, type IV: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
• Pseudoobstruction idiopathic intestinal: A gastrointestinal disorder where the intestinal walls are unable to contract normally to move digested material through the system which produces symptoms similar to an obstruction in the intestinal tract.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
• Quinsy: Tonsil abscess
• Rabies: An infectious disease that can affect any mammal including humans and is transmitted through the saliva of an infected animal. The infectious agent is the Neurotropic lyssavirus which affects the salivary gland and also causes neurological symptoms.
• Radiation induced meningioma: A type of brain tumor caused by exposure of the head region to radiation. Radiation is often used to treat a number of conditions, particularly cancer. The tumor can develop years or even decades after the exposure. Symptoms are determined by the exact location and size of the tumor.
• Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Ramsay Hunt II: A group of neurological disorders which progressively deteriorate and may include seizures, mental retardation, muscle spasms and muscle incoordination.
• Rapp-Hodgkin syndrome: A rare genetic multi-system disorder characterized by skin, teeth, hair and/or nail abnormalities, reduced ability to sweat and oral clefts.
• Rasmussen subacute encephalitis: A very rare progressive brain disease possibly caused by immune system problems. Symptoms become progressively worse and then the condition often stabilizes with a long life possible despite permanent neurological damage.
• Rasmussen's Encephalitis: Rare possibly-autoimmune brain condition.
• Red Whelk poisoning: Red Whelk are colorful, carnivorous snail found mainly in Britain and Japan. The salivary gland of some whelks contains tetramine which can cause symptoms in humans if eaten. Raw, cooked or canned whelk can cause poisoning. Red whelk have the highest concentration of toxins in the summer. Whelk is often used as fish bait.
• Riedel syndrome: A rare condition that occurs when fibrous tissue forms in the thyroid area and progressively destroys the thyroid gland.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Right parietal lobe syndrome related Alzheimer's disease: Right parietal lobe syndrome related Alzheimer's disease is a variant of Alzheimer's disease that involves abnormalities in a particular part of the brain. It is characterized by Alzheimer's symptoms as well as problems with such things as construction (making things) and drawing as well as denial of their disabilities. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
• Rolandic Epilepsy: A type of seizure where abnormal electrical activity occurs in a part of the brain called the rolandic strip. Symptoms usually only affect the lower half of one side of the face. These seizures tend to occur in children in an infrequent, usually nocturnal, pattern. The seizures are usually mild but can occasionally progress to a more generalized form which affects larger parts of the body. The condition is considered benign and patients usually outgrow the condition by adolescence.
• Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• SSADH deficiency (succinic semialdehyde dehydrogenase deficiency): A rare inherited metabolic disorder where an enzyme deficiency (succinic semialdehyde dehydrogenase) prevents the normal metabolism of gamma-aminobutyric acid.
• Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
• Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
• Schilder's Disease: Rare nerve myelin condition.
• Schizencephaly: A very rare disorder where the brain fails to develop normally and slits or clefts form in the brain. They type and severity of symptoms is determined by the degree of abnormality.
• Sea snake poisoning: The Sea snake is a poisonous snake found in the warmer western parts of the Pacific and Indian Ocean. Sea snakes have scales but not gills or fins so they still need to go to the surface of the water to breathe. Sea snake venom is particularly poisonous but their bite fails to achieve any significant envenomation. The venom is toxic to the nervous system and muscles.
• Secondarily generalized seizure: A partial seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. During a partial seizure movement, sensations, feelings or emotions may be affected. When the partial spreads to both sides of the brain it is then called generalized seizures. These seizures usually only last a few minutes.
• Secondary hypothyroidism: Secondary hypothyroidism is a condition in which the activity of the thyroid gland is decreased, due to failure of the pituitary gland or hypothalamus
• Seizures - intellectual deficit due to hydroxylysinuria: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
• Sensory nerve trauma: Injury or damage to a sensory nerve. Sensory nerves are nerves associated with delivering information from the body to the brain and spinal cord relating to the five senses - vision, hearing, touch, taste and smell. Damage to these nerves can result in heightened, reduced or abnormal sensations. Severity of symptoms vary depending on the location and extent of damage to the affected nerves.
• Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
• Short stature mental retardation eye anomalies: A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.
• Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
• Shy- Drager syndrome: also known as multiple system atrophy
• Sialuria, Finnish type: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. This condition is an adult form of sialuria.
• Simple partial seizure: A partial seizure is an electrical disturbance that originates in only one part of the brain and resulting in symptoms related to the body functions or parts that are controlled by that part of the brain. Partial seizures where the patient stays conscious are called simple partial seizures. During a simple partial seizure movement, sensations, feelings or emotions may be affected. Partial seizures may spread to other parts of the brain and are then called generalized seizures. These seizures usually only last a couple of minutes.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
• Sinus cancer: Cancer that originates from the mucosal tissue lining the sinus cavities or rarely from the bone itself.
• Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
• Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Skunk cabbage poisoning: Skunk cabbage is a herbaceous plant with large leaves and flowers which have a bad smell. It is most often found growing in the wild. The plant contains calcium oxalate crystal which can cause symptoms if large quantities are eaten.
• Slowly Progressive Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive VE: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. . Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Viliuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slowly Progressive Vilyuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The slowly progressive form is the most common form and it has four phases: acute, recurrent-exacerbative, fully developed and terminal. Initial acute symptoms last for about 2 to 6 weeks.
• Slurred speech: Slurring speech or difficulty articulating words
• Smith-Fineman-Myers syndrome 2: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq23.
• Social phobia: Excessive anxiety in social situations.
• Solvent abuse: Solvent abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Solvents include nail polish removers, paint thinners, gasoline, typing correction fluid and toxic markers. These solvents can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Solvent addiction: Solvent addiction refers to the compulsive need to abuse solvents (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Solvents are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Solvents includes paint thinner, toxic markers, gasoline, cigarette lighter fluid, typing correction fluid and nail polish removers.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic ataxia, Charlevoix-Saguenay type: A rare disorder characterized mainly by spasticity of the legs, uncoordinated leg movements and eye anomalies.
• Spastic dysphonia: A rare speech disorder caused by stiffness of the muscles in the throat that control speech.
• Spastic paraplegia 11, autosomal recessive: A rare genetic disorder characterized by progressive spasticity and weakness of the lower legs as well as mental retardation.
• Spastic paraplegia 15, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles as well as vision problems.
• Spastic paraplegia 2, X-linked: A very rare genetic disorder characterized by lower leg spasticity and weakness. It has an early onset, progresses slowly and eventually the brain becomes involved as well which produces sensory, speech and eye problems.
• Spastic paraplegia 20, autosomal recessive: A rare disorder characterized mainly by progressive stiffness, weakness and wasting of the lower leg muscles. The thumb muscle and speech is also affected.
• Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
• Spastic paraplegia glaucoma precocious puberty: A rare syndrome characterized by premature puberty, mental retardation, glaucoma and progressive spastic paraplegia.
• Spastic paraplegia nephritis deafness: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Spastic paraplegia type 5A, recessive: A rare disorder characterized mainly by progressive stiffness and weakness of lower leg muscles. Bladder and speech problems are also usually present.
• Spastic paraplegia with precocious puberty: A rare genetic disorder characterized mainly by early onset of progressive weakness of the lower legs as well as premature onset of signs of puberty.
• Spasticity: When there are hypertonic movements of the muscles and they are stiff
• Speaking difficulty: The occurrence of difficulty communicating through speech
• Speech abnormalities: difficulty in speaking and articulation of words and communication
• Speech changes: Any changes that occur to ones speech
• Speech difficulties: Any difficulties that one may experience in communicating
• Speech disorders: Any disorder which affects ones speech
• Speech disturbances: Any disturbance in ones speech
• Spinal bulbar motor neuropathy: A rare inherited disease that affects the nerves in the spine and in the bulbous (bulbar) part of the brain stem. The main signs are muscle weakness and wasting.
• Spinal muscular atrophy, Adult form: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia 10: A rare genetic disorder (chromosome 22q13 defect) characterized by gait ataxia and dysarthria (speech disorder). The severity of the condition is variable with some patients becoming wheelchair dependent.
• Spinocerebellar ataxia 11: A rare genetic disorder (chromosome 15q14-21.3 defect) characterized by gait ataxia and dysarthria (speech disorder). This form of the condition progresses slowly and doesn't affect life expectancy.
• Spinocerebellar ataxia 12: A rare genetic disorder (chromosome 5q31-q33 defect) characterized by variable symptoms such as arm tremors, gait ataxia and dysarthria (speech disorder) with other.
• Spinocerebellar ataxia 13: A rare genetic disorder (chromosome 19 defect) characterized by progressive mental retardation. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.
• Spinocerebellar ataxia 15: A rare genetic disorder (chromosome 3p26-p25 defect) characterized by gait ataxia, eye movement problems and dysarthria (speech disorder). The condition tends to progress slowly over decades with most patients retaining the ability to walk.
• Spinocerebellar ataxia 16: A rare genetic disorder (chromosome 3p26.2-pter defect) characterized by gait ataxia, eye movement problems, tremor and dysarthria (speech disorder). The progression of the condition is variable (1-40 years).
• Spinocerebellar ataxia 17: A rare genetic disorder (chromosome 6q27 defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 18: A rare genetic disorder (chromosome 7q22-31 defect) characterized by muscle atrophy and sensory loss. The severity of symptoms is variable. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 20: A rare genetic disorder (chromosome 11 defect) characterized by palatal tremor and dysphonia. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 21: A rare genetic disorder (chromosome 7p21.3-p15.1 defect) characterized by extrapyramidal features and cognitive impairment. The condition progresses slowly over decades. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 22: A rare genetic disorder (chromosome defect) characterized by ataxia, eye movement problems and dysarthria (speech disorder). The condition progresses slowly over decades.
• Spinocerebellar ataxia 23: A rare genetic disorder (chromosome 20p13-12.3 defect) characterized by ataxia, sensory loss and pyramidal signs. It is a slowly progressing condition.
• Spinocerebellar ataxia 26: A rare genetic disorder (chromosome 19p13.3 defect) characterized by slowly progressive ataxia and dysarthria (speech disorder).
• Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 28: A rare genetic disorder (chromosome 18p11 defect) characterized by eye muscle paralysis (ophthalmoplegia) and increased reflexes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 29: A form of ataxia which starts from birth but is nonprogressive. The severity of symptoms may vary amongst patients.
• Spinocerebellar ataxia 3: A rare genetic disorder (chromosome 14q32.1defect) characterized by . Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types. The duration of the disease is 1-20 years.
• Spinocerebellar ataxia 4: An inherited disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as ataxia, sensory neuropathy and spastic paraplegia.
• Spinocerebellar ataxia 5: A genetic disorder involving progressive degeneration of the spinal cord resulting in symptoms such as incoordination and eye movement problems.
• Spinocerebellar ataxia 8: A rare genetic disorder (chromosome 13q21 defect) characterized by horizontal nystagmus and mild sensory neuropathy. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia with axonal neuropathy, type 2: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Spinocerebellar ataxia, Machado-Joseph type I: A rare genetic disorder (chromosome 14q32.1defect) characterized by early onset of symptoms - ataxia, bulging eyes and extrapyramidal symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type II: A rare genetic disorder (chromosome 14q32.1defect) characterized by intermediate onset of symptoms. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type III: A rare genetic disorder (chromosome 14q32.1defect) characterized by later onset of symptoms such as weak eye muscles and peripheral neuropathy. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type IV: A rare genetic disorder (chromosome 14q32.1defect) characterized by late onset of symptoms - muscle twitching and Parkinsonism. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, Machado-Joseph type V: A rare genetic disorder (chromosome 14q32.1defect) characterized by spastic paraparesis. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia, X-linked, 5: A rare, X-linked neurological disorder which is not progressive and mainly involves ataxia, nystagmus and dysarthria.
• Spinocerebellar ataxia, autosomal dominant: A group of disorder involving slow progressing incoordination and speech and eye movement problems due to degeneration of the cerebellum of the brain. The various forms of the disorder vary according to the degree and range of muscle involvement.
• Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Spinocerebellar ataxia, autosomal recessive 2: A rare, recessively inherited brain disorder characterized by ataxia and mental retardation. The severity of the disorder is variable and the condition is nonprogressive.
• Spinocerebellar ataxia, autosomal recessive 4: A rare neurological disorder caused by a genetic defect (chromosome 1p36, recessive) and resulting in ataxia and eye movement problems.
• Spinocerebellar ataxia, autosomal recessive 6: A rare disorder that has neurological origins and causes nonprogressive ataxia, which begins during infancy.
• Spinocerebellar ataxia, autosomal recessive 7: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. The severity of the disorder is variable.
• Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy: A rare neurological disorder caused by a genetic defect (chromosome 114q31-q32, recessive) and resulting in ataxia and dysarthria.
• Spinocerebellar ataxia-dysmorphism syndrome: A rare genetic disorder characterized by characteristic facial anomalies, ataxia, delayed psychomotor development and various skeletal deformities.
• Spinocerebellar degenerescence, book type: A very rare syndrome characterized by movement problems and mental retardation that originates from a brain defect.
• Split-leaf philodendron poisoning: Split-leaf philodendron is a climbing vine with a distinctive leaf which has lobes and holes. The plant bears a relatively large fruit which is edible after it has ripened for a year. The green fruit contains oxalic acid which can cause symptoms if eaten. However, some people are allergic even to the ripe fruit.
• Spondyloepimetaphyseal dysplasia, X linked with mental deterioration: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.
• Spongiform encephalopathy: A rare inherited prion disease which has a range of manifestations resulting primarily from degeneration of the nervous system.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Subarachnoid hemorrhage: subarachnoid hemorrhage is bleeding in the area between the brain and the thin tissues that cover the brain. This area is called the subarachnoid space
• Sydenham chorea: Brain disease causing involuntary movements or spasms.
• Syringobulbia: A neurological disorder that progresses slowly and is characterized by a fluid filled cavity in the spinal cord and brain stem.
• Takayasu arteritis: A chronic inflammation of the large blood vessels leading from the aorta which results in lack of pulse in the arms and the carotid arteries, transient paraplegia and blindness and atrophy of the facial muscles. Also called Takayasu's disease, pulseless disease, brachiocephgalic arteritis or aortic arch syndrome.
• Tertiary hypothyroidism: Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system.
• Thalamic Syndrome (Dejerine Roussy): A rare neurological condition where damage to the part of the brain that controls sensation (thalamus) results in excessive pain in response to mild stimulation or reduced sensation. The limbs and face are the parts of the body most often affected.
• Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
• Thanos-Stewart-Zonana Syndrome: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
• Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
• Thrombocytopathy - asplenia - miosis: A very rare syndrome characterized by a lack of spleen function, reduced blood platelets and contracted pupils.
• Thumb deformity, alopecia, pigmentation anomaly: A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation.
• Thyrocerebral-retinal syndrome: A very rare syndrome observed in a brother and sister and characterized by thyroid, kidney and neurological disease.
• Thyroid symptoms: Symptoms affecting the thyroid gland
• Todd's Paralysis: Recurrent episodes of seizure and paralysis.
• Tome-Brune-Fardeau syndrome: A rare syndrome involving neurological impairment which manifests as movement disorders and dementia.
• Torsion dystonia: A movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction.
• Torsion dystonia, X-linked: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. The first symptom in this form is spasmodic eye blinking.
• Torsion dystonia, autosomal dominant: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Neck and torso muscle are affected first and progression is slower and occurs over a longer period of time than in the autosomal recessive form.
• Torsion dystonia, autosomal recessive: An inherited movement disorder where the muscles contract and contort uncontrollably due to neurological dysfunction. Muscle contractures start in the hands and feet and spread quickly to the trunk and extremities. Progression tends to slow down during adulthood.
• Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Transient ischemic attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Tremor hereditary essential, 1: An inherited movement disorder involving tremors which occurs mainly in the arms but other parts of the body are often involved. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.
• Tremor hereditary essential, 2: An inherited movement disorder involving tremors. Any kind of stress on the body such as hunger and tiredness can aggravate the condition.
• Trichinosis: Worm infection usually caught from pigs
• Trigonocephaly - ptosis - mental retardation: A very rare syndrome characterized mainly by droopy eyelids, mental retardation and a triangular shaped forehead.
• Trihydroxycholestanoylcoa oxidase isolated deficiency: A rare metabolic disorder where an enzyme (Trihydroxycholestanoyl-CoA oxidase) deficiency disturbs the formation of bile acids.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Tropical Reef Crab poisoning: The tropical reef crab is commonly found and eaten in the Indo-Pacific region. These crabs can contain toxic chemicals which can cause severe poisoning in humans if eaten. The best way to avoid poisoning is to not eat these crabs at all.
• Tropical Spastic Paraparesis: A form of spastic partial paralysis of the lower limbs which occurs in the tropics
• Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Vacinko syndrome: A psychological disorder observed in Oglala Sioux Indians. The symptoms are variable.
• Van Bogaert disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Van Bogaert's disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Van Bogaert-Scherer-Epstein Disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Variant CJD: New human CJD subtype linked to mad cow disease (BSE).
• Vascular malformations of the brain: Conditions affecting the brain blood vessels. The type and severity of symptoms is determined by the type, location and extent of the malformation. There are six types of vascular malformations of the brain: telangiectasis, venous malformations, cavernous malformations, arteriovenous malformations, vein of Galen malformation and mixed malformations.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
• Voice symptoms: Symptoms affecting the voice
• W syndrome: A rare genetic disorder involving distinctive facial features, mental retardation, speech problems and limb deformities.
• Water Intoxication: Excessive water intake can lead to water intoxication and ultimately death.
• Wax begonia poisoning: Wax begonia is a plant that bears many small white, pink or red flowers. The roots and rhizomes (thickened roots) contain a chemical called oxalates which can cause various symptoms if eaten. They are considered to have a low level of toxicity though.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• West African Trypanosomiasis: West African sleeping sickness from the tsetse fly
• Western equine encephalitis: An infectious disease caused by an arbovirus (Alphavirus - Togaviraidae) and transmitted by infected mosquitoes. The infection primarily attacks that central nervous system and severity can range from asymptomatic to severe complications and even death in rare cases.
• Western/Eastern/California encephalitis: A mosquito born virus transmitted to humans and sometimes horses.
• Westphal-Leyden ataxia: A form of ataxia that starts in childhood and is associated with symptoms such as vomiting, vertigo, rigid muscles, seizures, mental disorder, loss of control over voluntary movements and dementia. Death generally occurs within a decade of onset of symptoms.
• Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
• Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
• Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• Wolfram's disease: A condition that is inherited and consists of multiple symptoms
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• X fragile site folic acid type: A fragile X syndrome that is characterised by mental retardation and developmental delay
• X-linked hydrocephalus spectrum: A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency.
• X-linked mental retardation - hypotonia: A very rare inherited disorder characterized primarily by mental retardation. Initial symptoms of muscle weakness gives way to spasticity and contractures.
• X-linked mental retardation craniofacial abnormal microcepahly club: An x-linked condition that is characterised by mental retardation and dysmorphic facies
• Xanax overdose: Xanax is a prescription drug used to treat stress and anxiety. Excessive doses of the drug can result in various symptoms and even death in severe cases.
• Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
• Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
• Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
• Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
• Xeroderma pigmentosum, type 4: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type D involves neurological symptoms.
• Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.

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