MeSH Browser

MeSH Supplementary: Dystonia 6, torsion
Unique ID: C538003
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538003
Entry Term(s): Torsion Dystonia, Adult-Onset, Mixed Type; Torsion dystonia adult onset mixed type
Registry Number: 0
Heading Mapped to: *Dystonia Musculorum Deformans
Frequency: 18
Note: An autosomal dominant form of dystonia musculorum deformans characterized by early involvement of craniofacial muscles with progression to the arms, and laryngeal dystonia that causes speech difficulties. Mutations in the THAP1 gene have been identified. OMIM: 602629
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Dystonia 6, torsion MeSH Supplementary Concept Data 2024