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GENATLAS PHENOTYPE
last update : 22/10/2008
Symbol DYT1
Location 9q34
Name dystonia 1, idiopathic torsion
Other name(s)
  • Oppenheim dystonia
  • dystonia musculorum deformans 1
    • Corresponding gene TOR1A
    Other symbol(s) ITD1
    Main clinical features
  • the most common and severe form of hereditary dystonia, with childhood limb-onset, progressive, frequent in Jewish patients
  • involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor and abnormal posture
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name dystonia 1, torsion (autosomal dominant, torsin A)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function possibly misfolded, which cannot be properly processed in the secretory pathway of eukaryotic cells
    Remark(s) mutation-induced premature degradation may contribute to the pathogenesis of dystonia via a loss-of-function mechanism and underscore the importance of both the proteasome and macroautophagy in the clearance of dystonia-associated TOR1A mutant proteins
    Genotype/Phenotype correlations
  • 30–40p 100 penetrance