Catalog

Primary dystonia DYT1 gene mutation

No MMS code

Link to WHO Definition

Primary dystonia DYT1 gene mutation – http://id.who.int/icd/entity/1330415415

Primary dystonia due to DYT1 gene mutation is an autosomal dominant disorder caused by GAG deletion of the TOR1A (Torsin A) on chromosome 9. Often starts as a focal lower extremity dystonia in early childhood, which can progress to generalized dystonia.