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Dystonia is a clinically and genetically heterogeneous condition characterized by involuntary twisting, abnormal postures, and repetitive movements. Early-onset, generalized dystonia is an autosomal dominant disorder associated in most cases with a GAG deletion in the coding region of the DYT1 gene (TOR1A) on chromosome 9q34.1,2⇓ Not all individuals with the GAG deletion in the DYT1 gene develop dystonia; penetrance has been estimated at approximately 30 to 40%.3
Focal dystonia is the most common type of dystonia, but the pathophysiology remains obscure. We observed that many musicians with focal dystonia have associated peripheral nerve or soft tissue injuries.4 Because most musicians with these injuries do not develop focal dystonia, we hypothesized that susceptibility genes may underlie the development of sporadic, idiopathic focal dystonia in musicians. Both the GAG deletion in the DYT1 gene and the DYT1 founder haplotype have been observed in some patients with idiopathic focal dystonia2,5,6⇓ …
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