DYT-THAP1
Alternate names[edit | edit source]
DYT6; Torsion dystonia adult onset mixed type; Dystonia 6; Adolescent-onset dystonia of mixed type
Definition[edit | edit source]
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Epidemiology[edit | edit source]
It has been reported in two Amish-Mennonite families.
Cause[edit | edit source]
DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).
Inheritance[edit | edit source]
DYT6 is transmitted as an autosomal dominant trait.
Signs and symptoms[edit | edit source]
Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Generalized dystonia
30%-79% of people have these symptoms
- Dysarthria(Difficulty articulating speech)
5%-29% of people have these symptoms
- Blepharospasm(Eyelid spasm)
- Laryngeal dystonia
- Lingual dystonia
- Myoclonus
- Torticollis(Wry neck)
1%-4% of people have these symptoms
- Incomplete penetrance
- Limb dystonia
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
DYT-THAP1 is a rare disease.
DYT-THAP1 Resources | ||
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