Dystonia Genetic Research

Beth Israel’s Bachmann-Strauss Dystonia Center of Excellence is the nation’s first dedicated to dystonia and provides neurology specialists with the resources to develop better treatment and pursue a cure for dystonia patients. Research is not only a critical component to providing the comprehensive, compassionate care our NYC neurologists are renowned for, but also impossible without the participation of our patients and their families.

What is dystonia?
Dystonia is a neurological disorder characterized by uncontrollable, involuntary muscle contractions that result in repetitive movements, twitching, twisting, or abnormal postures and poses. There are several different types of dystonia, which can involve one or more parts of the body that are not always related. Writer’s cramp, cervical dystonia (spasmodic torticollis), laryngeal dystonia (dysphonia), facial dystonia (oromandibulardystonia), excessive blinking (blepharospasm), and oral facial dystonia, commonly referred to as Meige syndrome, are all forms of dystonia. There are different causes of dystonia, which are separated into three groups:

  • Idiopathic: There is no clear cause
  • Genetic: Inherited from one parent or both
  • Acquired: Also called secondary dystonia, it is caused by damage to the brain, generally as a result of environment, injury, trauma, or medication. When dystonia is a symptom of another disease or condition, it is also considered acquired.

Dystonia can appear at any age and can stem from mutations in a number of different genes. 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
The neurology specialists at Mount Sinai Beth Israel seek to identify additional non-DYT1 genes and to better understand all of the genes that contribute to dystonia. We also wish to investigate differences in how these genes are expressed within families, including why some gene carriers have no symptoms of dystonia.

This 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 sample, and 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 Mount Sinai Beth Israel, please contact us: draymond@chpnet.org
(888) 228-1688
Mount Sinai Beth Israel
10 Union Square East, Ste 5J
New York, NY 10003
Attention: Deborah Raymond

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