This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia. Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread to other parts of the body, causing the muscles to twist the body into unnatural positions. Symptoms can vary greatly, even among members of the same family. For some, the disorder can cause significant disability, while others may experiences only isolated writer’s cramp. A small deletion in the DYT1 gene is the major cause of early-onset dystonia. The genetic change responsible for early onset generalized dystonia is inherited in an autosomal dominant manner, though not everyone who inherits the genetic change will develop the condition. It is thought that only 30% of individuals who inherit the mutation will develop DYT1 dystonia. This is known as reduced penetrance . Treatments include oral medications such as trihexyphenidyl, baclofen, and clonazepam. Botulinum toxin injections may be used in conjunction with oral medications when symptoms are focused in a certain area. In some cases, deep brain stimulation may be indicated.
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