Dystonia musculorum deformans type 1

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

Also Known As:

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

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Dystonia Musculorum Deformans: 137
      - Dystonia musculorum deformans type 1: 304
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Basal Ganglia Diseases: 346
      - Dystonia Musculorum Deformans: 137
        Dystonia musculorum deformans type 1: 304
  - Movement Disorders: 4634
    - Dystonic Disorders: 807
      - Dystonia Musculorum Deformans: 137
        Dystonia musculorum deformans type 1: 304
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Dystonia Musculorum Deformans: 137
      - Dystonia musculorum deformans type 1: 304

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