Dystonia Musculorum Deformans

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

Also Known As:

Torsion Dystonia; Dystonia Deformans Musculorum; Dystonia Deformans Progressiva; Torsion Disease of Childhood; Dystonia, Idiopathic Torsion; Dystonias, Idiopathic Torsion; Dystonias, Torsion; Idiopathic Torsion Dystonias; Oppenheim Ziehen Disease; Spasm, Progressive Torsion; Torsion Disease, Childhood; Torsion Dystonia, Idiopathic; Torsion Spasm, Progressive; Childhood Torsion Disease; Idiopathic Torsion Dystonia; Oppenheim-Ziehen Disease; Progressive Torsion Spasm

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

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