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GENATLAS PHENOTYPE
last update : 15-04-2015
Symbol DYT2
Location 1p35.1
Name torsion dystonia 2
Other name(s) dystonia musculorum deformans 2
Corresponding gene HPCA
Main clinical features
  • onset occurred in infancy, with torticollis, facial grimacing, blepharospasm, and dystonic posturing and jerking of the upper and lower limbs
  • generalized dystonia with difficulties in eating and inability to speak, and to walk
  • Genetic determination autosomal recessive
    autosomal recessive
    Function/system disorder neuromuscular
    neuromuscular
    Type disease
    Remark(s)