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Disease Dystonia Musculorum Deformans

Name Dystonia Musculorum Deformans
Synonyms Childhood Torsion Disease | Dystonia Deformans Musculorum | Dystonia Deformans Progressiva | Dystonia, Idiopathic Torsion | Dystonias, Idiopathic Torsion | Dystonias, Torsion | Idiopathic Torsion Dystonia | Idiopathic Torsion Dystonias | Oppenheim Ziehen Disease | Oppenheim-Ziehen Disease | Progressive Torsion Spasm | Spasm, Progressive Torsion | Torsion Disease, Childhood | Torsion Disease of Childhood | Torsion Dystonia | Torsion Dystonia, Idiopathic | Torsion Spasm, Progressive
Definition 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)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D004422
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Basal Ganglia Diseases Has associated chemicals Has associated genes Has associated exposure references Dystonia Musculorum Deformans Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Movement Disorders Has associated chemicals Has associated genes Has associated exposure references Dystonic Disorders Has associated chemicals Has associated genes Dystonia Musculorum Deformans Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Dystonia Musculorum Deformans Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Dystonia Musculorum Deformans Has associated chemicals Has associated genes

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Dystonia Musculorum Deformans Has associated chemicals Has associated genes
  Dystonia 15, myoclonic
  Dystonia 6, torsion Has associated chemicals Has associated genes
  Dystonia musculorum deformans 4
  Dystonia musculorum deformans type 1 Has associated chemicals Has associated genes
  Dystonia musculorum deformans type 2 Has associated chemicals Has associated genes
  Whispering dysphonia, hereditary