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Dopa-responsive dystonia

Disease definition

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms).

ORPHA:255

  • Synonym(s):
    • HPD with diurnal fluctuation
    • Hereditary progressive dystonia with diurnal fluctuation
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Childhood
  • ICD-10: G24.8
  • OMIM: -
  • UMLS: C1851920
  • MeSH: C538007
  • GARD: 12144
  • MedDRA: -

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