What is dystonia?
Dystonia is a neurological disorder that results in involuntary muscle contractions. These movements may have a twisting or turning quality and may involve different parts of the body. Writer’s cramp, torticollis, spasmodic dysphonia, oromandibulardystonia, blepharospasm and Meige syndrome are all forms of dystonia. There are different causes of dystonia.

DYT1 dystonia refers to the early onset form, which usually begins in an arm or leg and is due to changes in a gene called TOR1A.

Non-DYT1 dystonia refers to the types of dystonia which are not caused by the DYT1 gene. These include the recently identified DYT6 gene (THAP1). DYT6 is the cause of early onset (22 years) dystonia involving more than one part of the body about 25% of the time. While DYT1 dystonia tends to be most prominent in the arms and legs, DYT6 dystonia is most disabling in the neck, voice and face.

About our dystonia research study
At Beth Israel Medical Center, our research efforts seek to identify additional non-DYT1 genes and to better understand all of the genes that contribute to dystonia. We also seek to identify differences in how these genes are expressed within families, including why some gene carriers have no symptoms of dystonia.

Research to identify the genes that cause dystonia will lead to better genetic testing, counseling and treatment, and may even result in a cure.

We need your help!
We are searching for families with two or more relatives who have dystonia to participate in our research study. Participation involves a brief physical exam, a blood sampleand an interview about your health and family history.

This national research study does not require travel to New York. Blood samples and phone interviews are arranged at a time and place convenient for participants. There is no cost to you or your family for participating.

Because this is a research study, individuals will not receive personal results. However, your participation will benefit future generations of your family and other families with dystonia.

If you have questions about genetic counseling and testing, please consult with your physician or a genetic counselor. You may also wish to visit any of the following websites for more information: The Bachmann Strauss Dystonia and Parkison's Foundation, Dystonia Medical Research Foundation or the National Society of Genetic Counselors .

To learn more about participating in the research efforts of Beth Israel Medical Center, please contact us: draymond@chpnet.org
(888) 228-1688
Beth Israel Medical Center
10 Union Square East, Ste 5J
New York, NY 10003
Attention: Deborah Raymond