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Studies with patients

Table of Contents (click to jump to sections)

Is there any treatment?
No one treatment has been found universally effective. Instead, physicians use a variety of therapies (medications, surgery and other treatments such as physical therapy, splinting, stress management, and biofeedback), aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among patients and even in the same person over time, the most effective therapy is often individualized.

What is the prognosis?
The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable and widespread and be unrelenting; sometimes, however, there is little or no progression.

What research is being done?
Investigators believe that the dystonias result from an abnormality in an area of the brain called the basal ganglia, where some of the messages that initiate muscle contractions are processed. Scientists suspect a defect in the body's ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. Scientists at the NINDS laboratories have conducted detailed investigations of the pattern of muscle activity in persons with dystonias. Studies using EEG analysis and neuroimaging are probing brain activity. The search for the gene or genes responsible for some forms of dominantly inherited dystonias continues. In 1989, a team of researchers mapped a gene for early-onset torsion dystonia to chromosome 9; the gene was subsequently named DYT1. In 1997, the team sequenced the DYT1 gene and found that it codes for a previously unknown protein now called "torsin A."