Glossary for Torticollis

• Aceruloplasminemia: A rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the blood. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas and liver. The iron overload results a neurodegeneration (ataxia, dementia and extrapyramidal disorders) and diabetes. Patients with only a partial absence of ceruloplasmin are often asymptomatic.
• Anotia - facial palsy - cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
• Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
• Aromatic amino acid decarboxylase deficiency: A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin. The condition manifests as movement and neurological problems.
• Arthrogryposis - epileptic seizures - migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
• Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
• Birth Injury: An injury to the mother caused by childbirth
• Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
• Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
• Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 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.
• Congenital absence of the sternocleidomastoid muscle: Absent neck muscle - in particular, the muscle that runs from behind the ear and down to the collar bones. These muscles allow the hear to flex and rotate. One or both of the muscles may be absent.
• Contractures, congenital, torticollis and malignant hyperthermia: A very rare syndrome characterized by contractures, torticollis and a hyperthermic reaction to general anesthetics.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Dystonia 7, torsion: A rare dominantly inherited movement disorder. The muscles contract involuntarily causing involuntary twisting movements. Type 7 is caused by a genetic defect on chromosome 18p. The severity of the condition is variable and usually only one part of the body is affected such as the neck.
• 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.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Meige syndrome: A neurological movement disorder involving symptoms such as involuntary facial movements and eye muscle spasms.
• Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Myoclonic dystonia: A very rare inherited syndrome characterized mainly by mild dystonia and myoclonic jerks that occur mainly in the arms, neck and trunk. Alcohol makes the condition worse. Psychiatric disorders are also often present.
• Ptosis strabismus diastasis: A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects.
• Sandifer syndrome: A rare disorder where torticollis (neck spasms) is associated with a hiatus hernia. All the symptoms seem to be as a result of the hiatus hernia.
• Scleroatonic muscular dystrophy: An inherited disorder affecting muscles and resulting in muscle weakness and wasting that starts from birth. The joints closest to the body tend to have limited movement whereas those in the hands and feet tend to be hyperextensible.
• Seven point syndrome: A specific group of deformities that is associated with infantile scoliosis.
• Spasmodic Torticollis: It is a chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and antagonist muscle contract simultaneously during dystonic movement.
• Spinal cord neoplasm: A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant.
• 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.
• Torsion dystonia 7: A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Usually the onset of symptoms is focused on one part of the body, usually the neck, eyes or hands.
• Vertigo, benign paroxysmal, in childhood: A rare harmless disorder in children which causes short periods of dizziness, nausea and involuntary eye movements.
• Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/