MeSH Browser

MeSH Supplementary: Dystonia musculorum deformans type 1
Unique ID: C538005
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538005
Entry Term(s): Dystonia 1, Torsion, Autosomal Dominant; Dystonia Musculorum Deformans 1; Dyt1; Early onset torsion dystonia; Early-Onset Generalized Torsion Dystonia; Early-Onset Primary Dystonia; Early-Onset Torsion Dystonia; Oppenheim Dystonia; Oppenheim's Dystonia; Primary Torsion Dystonia; Torsion dystonia 1, autosomal dominant
Registry Number: 0
Heading Mapped to: *Dystonia Musculorum Deformans
Frequency: 71
Note: A hereditary autosomal dominant form of dystonia musculorum deformans. Onset typically occurs in middle to late childhood and the disorder has a high incidence among Ashkenazi Jewish people, though PENETRANCE is incomplete and there is wide variablity in the severity and number of symptoms that may be present. Mutations in the DYT1 gene have been identified. OMIM: 128100
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Dystonia musculorum deformans type 1 MeSH Supplementary Concept Data 2024