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Diseases » Cerebral Atrophy » Glossary

Glossary for Cerebral Atrophy

$3q deletion$: 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.
Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
Brain conditions: Medical conditions that affect the brain
CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
Cerebral Palsy: Any brain disorder causing movement disability
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.
Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
Dementia: Various mental impairment conditions.
Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Epileptic encephalopathy, Lennox-Gastaut type: A rare genetic disorder characterized by mental retardation and physical anomalies. The brain condition is progressive and results in loss of previously acquired skills.
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.
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.
Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
Mercury - Teratogenic Agent: There is strong evidence to indicate that exposure to Mercury during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
Methimazole antenatal infection: Fetal exposure to methimazole, an antithyroid agent.
Methylmercury - Teratogenic Agent: There is evidence to indicate that exposure to Methyl Mercury during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
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).
Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
Myelocerebellar disorder: A rare genetic disorder characterized by cerebellar ataxia (nervous system disorder that causes unsteadiness and incoordination) and pancytopenia (shortage of all types of blood cells).
OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
Olivopontocerebellar atrophy - deafness: A very rare syndrome characterized mainly by brain abnormalities and deafness.
Osteopetrosis with neuroaxonal dysplasia, infantile form: A rare disorder characterized by abnormally increased bone density as old bone is not resorbed and replaced with new bone as well as nervous system problems.
Retinis pigmentosa - deafness - hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
Speech symptoms: Problems with speech or voice.
Stroke: Serious brain event from bleeding or blood clots.
Vision loss: Impaired vision or loss of vision
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.