Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 04-05-2020
Symbol DPDV
Location 11p15.5
Name dystonia, progressive, with diurnal variation, L-dopa-responsive
Other name(s)
  • dystonia, DOPA-responsive, autosomal recessive
  • Segawa syndrome
  • Corresponding gene TH
    Other symbol(s) ARDRD
    Main clinical features
  • dystonic posture or movement of one limb appeared insidiously , rigidity, resting tremors, or cerebellar, pyramidal and sensory changes were not found, and intelligence was normal
  • Genetic determination autosomal recessive
    Related entries including early-onset parkinsonism and Segawa syndrome
    Function/system disorder neurology
    Type disease
    Gene product
    Name tyrosine hydroxylase (TH)