Don’t fight DYT-THAP1 alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 98806
Primary dystonia DYT6 type is characterized by focal, predominantly cranio- cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!