Orphanet: Autosomal recessive dopa responsive dystonia

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Autosomal recessive dopa-responsive dystonia

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive Segawa syndrome
    • DYT5b
    • Tyrosine hydroxylase deficiency
    • Tyrosine hydroxylase-deficient dopa-responsive dystonia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G24.1
  • OMIM: 605407
  • UMLS: C2673535
  • MeSH: -
  • GARD: 1902
  • MedDRA: -

Detailed information


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