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What research is being done on dystonias?
The ultimate goals of research are to find the cause(s) of the dystonias so that they can be prevented, and to find ways to cure or more effectively treat people who are affected. The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), is the Federal agency with primary responsibility for brain and neuromuscular research. NINDS sponsors research on dystonia both in its facilities at the NIH and through grants to medical centers and institutions throughout the country. Scientists at other NIH institutes also conduct research that may benefit individuals with dystonia. Scientists at the National Institute on Deafness and Other Communication Disorders (NIDCD) are studying improved treatments for speech and voice disorders associated with dystonia. The National Eye Institute (NEI) supports work on the study of blepharospasm and related problems, and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) supports work on dystonia, including the rehabilitation for the disorder.
Scientists at NINDS laboratories have conducted detailed investigations of the patterns of muscle activity, imaging studies of brain activity, and physiological studies of the brain in persons with dystonia.
Treatment studies, using surgery or medication, are being conducted in many centers, including the NIH. To learn more about clinical studies on dystonia, please go to www.clinicaltrials.gov.
Recently, the Dystonia Coalition—a clinical research network for dystonia— has been established with support from the NINDS and the NIH Office of Rare Disease Research as part of the Rare Disease Clinical Research Network. For more information on the clinical studies and patient registry established by the Dystonia Coalition, see http://rarediseasesnetwork.epi.usf.edu/dystonia/.
The search for genes responsible for some forms of dystonia 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." The discovery of the DYT1 gene and the torsin A protein provide the opportunity for prenatal testing, allow doctors to make a specific diagnosis in some cases of dystonia, and permit the investigation of molecular and cellular mechanisms that lead to disease.
The discovery of the mutation in “torsin A' has enabled scientists to study animal models into which the mutated gene has been introduced. Through research with patients informed by the latest discoveries from genetics and basic neuroscience, scientists and doctors hope to better understand dystonia and find more effective treatments.
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