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DYT6 Dystonia

DYT6 dystonia is an autosomal dominant primary dystonia that has been mapped to chromosome 8 (8p21q22). The disorder has been described in members of 2 large Mennonite families (kindreds). Affected members of these kindreds have been shown to share a common set of genes (haplotype) closely linked to DYT6, suggesting a shared mutation in the past. Symptoms, which may become apparent in either childhood or adulthood, may initially affect muscles of the limbs or the neck (cervical) regions. In almost all affected members, there has been extension of the dystonia from the initial site of involvement to multiple body regions, with most affected by dystonia of limb, head, and cervical regions. Reports suggest that the most disabling feature of the disorder often consists of severe difficulties articulating speech (dysarthria).