Autosomal recessive dopa-responsive dystonia

What is Autosomal recessive dopa-responsive dystonia?

A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

Other condition names

  • Autosomal recessive Segawa syndrome
  • DYT5b
  • Tyrosine hydroxylase deficiency
  • Tyrosine hydroxylase-deficient dopa-responsive dystonia

Inheritance type

Autosomal recessive


  • Europe: 1-9 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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