Autosomal dominant dopa-responsive dystonia

What is Autosomal dominant dopa-responsive dystonia?

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.

Other condition names

  • 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

Inheritance type

Autosomal dominant, Not applicable


  • Europe: 1-9 in 1,000 000

Age of Onset

  • Childhood
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