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Primary dystonia, DYT6 type
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
ORPHA:98806Classification level: Disorder
It has been reported in two Amish-Mennonite families.
Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.
DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).
DYT6 is transmitted as an autosomal dominant trait.