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The Bachmann-Strauss Dystonia & Parkinson Foundation: New Study Identifies Gene Mutations as Cause of Dystonia in Amish-Mennonite Families
Date:2/3/2009

While people may carry the DYT1 or THAP1 genes, they may not show clinical symptoms, suggesting that other genes or environmental factors also play a role in these diseases.

"We are thrilled by these new findings, which should open up the science in many different ways," said Dr. Bressman. "Studies are underway to determine the role of THAP1 in other families and populations. Based on the families we identified, dystonia due to DYT6 is similar to DYT1 in that it starts in childhood and can affect many muscles but, unlike DYT1, people who have the DYT6 mutation are more likely to have problems in the lower face, jaw and vocal cords."

Dystonia is a neurological muscle disorder that causes uncontrollable, painful spasms in one or more parts of the body. It strikes an estimated 500,000 people in North America alone, affecting more people than muscular dystrophy, Huntington's disease and Lou Gehrig's disease combined.

The Bachmann-Strauss Dystonia & Parkinson Foundation provided funding in part for this study and for the earlier discovery of the DYT1 gene.

"This impressive discovery will play an important role in furthering our understanding of this terrible disease," said Bonnie Strauss, president and founder of the organization.

Established in 1995 to find better treatments and cures for the movement disorders, dystonia and Parkinson's disease, The Bachmann-Strauss Dystonia & Parkinson Foundation is an independent, nonprofit, 501(c)3 organization. Its funding is made possible through the generosity of individual and corporate contributors.


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SOURCE The Bachmann-Strauss Dystonia & Parkinson Foundation
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