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Dystonia-6 (DYT6) (OMIM#602629), first described in the genetically isolated Amish-Mennonite population (Almasy, et al., 1997), is an autosomal dominant movement disorder characterized by early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties. In 2009, Fuchs et al. (Fuchs, et al., 2009) demonstrated the involvement of THAP1 gene mutation in DYT6 dystonia with the characterization of an insertion/deletion founder mutation in four related Amish-Mennonite families. Several teams have reported numerous other mutations in the coding sequence of THAP1 in DYT6 patients indicating that DYT6 dystonia was present also in populations of different ancestry. |