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Primary dystonia, DYT6 type

Orpha number ORPHA98806
Synonym(s) DYT6
Generalized cervical and upper-limb-onset dystonia
Idiopathic torsion dystonia of mixed type
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Adolescence / Young adulthood
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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) and is transmitted as an autosomal dominant trait.


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Detailed information

Review article
  • EN (2014)
Clinical practice guidelines
  • EN (2011)Patient Inform
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