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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-01-2009
Symbol DYT12
Location 19q13
HGNC id 3100
Name dystonia 12
Other name(s) dystonia-parkinsonoism rapid-onset
Corresponding gene ATP1A3
Other symbol(s) RODP
Main clinical features
  • dystonia-parkinsonism characterized by an unusually rapid evolution of signs and symptoms
  • rapid-onset between 14 and 45 years of age, very slow progressive, with dysarthria, dysphagia, bradykinesia, and dystonic posturing
  • incomplete penetrance
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name ATPase, Na+/K+ transporting, alpha 3 polypeptide
    Remark(s) genetic testing for the ATP1A3 gene is recommended when abrupt onset, rostrocaudal gradient and prominent bulbar findings are present (Brashear 2007)