DYT-THAP1

Alternate names

DYT6; Torsion dystonia adult onset mixed type; Dystonia 6; Adolescent-onset dystonia of mixed type

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.

Cause

DYT6 is caused by mutations in the THAP1 gene (on chromosome 8).

Inheritance

Autosomal dominant pattern, a 50/50 chance.

DYT6 is transmitted as an autosomal dominant trait.

Signs and symptoms

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

NIH genetic and rare disease info

• NIH info on DYT-THAP1

DYT-THAP1 is a rare disease.