Ashkenazi Disorders: Mendelian

Torsion Dystonia

Torsion dystonia I is a progressive movement disorder characterized by sustained, twisting muscle spasms. With time, the frequency and duration of these spasms increases, leading to joint contractures and progressive disability. Individuals with torsion dystonia have normal early development and normal intelligence. The underlying mechanism of the disorder is not well understood. There is no cure, but there has been progress in treating dystonia with a variety of medications.

Disease frequency:1/6,000 – 1/2,000 in those of Jewish ancestry.
1 in 6,000 to 1 in 2,000
Diagnosis:Evaluation by a physician knowledgeable about the symptoms of the disorder. Increasingly by testing of one of the genes involved in this condition.
Inheritance:Autosomal Dominant
Prenatal diagnosis:Possible in families where a mutation has been identified in a torsion dystonia gene.

Technical Information on Torsion Dystonia

Additional Information:
Dystonia Medical Research Foundation
1 E. Wacker Drive, #2430
Chicago, IL 60601-1905
(312) 755-0198
fax: (312) 803-0138

Bachman-Strauss Dystonia & Parkinson Foundation
Mount Sinai Medical Center
One Gustave Levy Place Box 1490
New York, NY 10029
(212) 241-5614
fax: (212) 987-0662