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Organization Information

Dystonia Medical Research Foundation

About

Advancing research for more treatments and ultimately a cure, promoting awareness and education, and supporting the needs and well being of affected individuals and families.

Real Life

At least three generations of the Shaughnessy family have been struck by myoclonus-dystonia. Mark Shaughnessy's father used to shake so badly he couldn't eat or drink. At the time, myoclonus-dystonia was not yet known, even to doctors. Mark and his wife Becky now have two children with the disorder, Connor (22) and Sara (16). Connor began losing control of his legs at age 8, but was not diagnosed until his teens. Once Connor was diagnosed, genetic testing confirmed that symptoms Mark and Sara were experiencing were also dystonia—and Grandpa as well. Myoclonus-dystonia causes rapid muscle jerking and involuntary twisting movements. Individuals experience obsessive compulsive disorder, depression, anxiety, and panic attacks. When drugs failed to control the myoclonus-dystonia, Connor and Sara underwent a procedure called deep brain stimulation. Electrodes are implanted in the brain, and a battery-powered stimulator is implanted in the chest. The siblings' results could not have been more different: Connor's symptoms have disappeared while Sara suffered life- threatening complications and the treatment failed. Mark manages his chronic pain with oral and injected medications. At times, the depression and mental health symptoms have been just as debilitating—if not more so—than the physical symptoms. The DMRF is working every day for families like the Shaughnessys—to make sure everyone with dystonia has access to effective treatment and ultimately a cure. Mark Shaughnessy is retired from a career in federal law enforcement. Becky works in medical device manufacturing. Connor is in college and Sara is in high school.