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last update : 30-06-2015
Symbol DYT27
Location 2q37.3
Name dystonia 27
Corresponding gene COL6A3
Main clinical features
  • onset of segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs at age 20 years
  • dystonic action and postural tremor, writer's cramp, oromandibular dystonia, and laryngeal dystonia
  • isolated dystonia with underlying neurodevelopmental deficits
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
  • mutation in exon 41, in all families, suggesting that perturbation of this specific region might be necessary to develop isolated dystonia (PMID: 26004199))