DYT7, Autosomal Dominant Focal Dystonia

In 1996, a large German pedigree was reported with autosomal dominant adult-onset focal dystonia. The predominant feature was cervical dystonia and postural hand tremors. One family member had spasmodic dysphonia, and some others had cranial or arm dystonia in addition to the cervical dystonia. Linkage analysis localized the disease gene to chromosome 18p. Further analysis of other families from the same region in Northern Germany revealed similar linkage, suggesting a founder effect; however, these findings have not been replicated, and the relative contribution of this gene to cervical dystonia overall is uncertain.