Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Dopa-responsive dystonia (DRD) 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. Disease data Classification Disease Synonyms Autosomal recessive sepiapterin reductase-deficient DRD Autosomalna recesywna DPD z niedoborem reduktazy sepiapteryny DRD z powodu SRD Niedobor reduktazy sepiapteryny Niedobór SPR DRD due to SRD SPR deficiency Sepiapterin reductase deficiency ORPHA code 70594 OMIM code 612716 ICD10 code G24.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl