Orphanet: Autosomal dominant dopa responsive dystonia

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Autosomal dominant dopa-responsive dystonia

Disease definition

A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.


Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant Segawa syndrome
    • DYT5a
    • GTPCH1-deficient DRD
    • GTPCH1-deficient dopa-responsive dystonia
    • HPD with marked diurnal fluctuation
    • Hereditary progressive dystonia with marked diurnal fluctuation
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood
  • ICD-10: G24.1
  • OMIM: 128230
  • UMLS: -
  • MeSH: -
  • GARD: 9817
  • MedDRA: -

Detailed information


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