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Dopa-responsive dystonia due to sepiapterin reductase deficiency

Disease definition

Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

ORPHA:70594

  • Synonym(s):
    • Autosomal recessive sepiapterin reductase-deficient DRD
    • DRD due to SRD
    • SPR deficiency
    • Sepiapterin reductase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G24.1
  • OMIM: 612716
  • UMLS: -
  • MeSH: -
  • GARD: 10365
  • MedDRA: -

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