DYT-THAP1
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 98806
Definition
Primary dystonia DYT6 type is characterized by focal, predominantly cranio- cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Epidemiology
It has been reported in two Amish-Mennonite families.
Clinical description
Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.
Etiology
DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).
Genetic counseling
DYT6 is transmitted as an autosomal dominant trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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