Dopa-responsive dystonia due to sepiapterin reductase deficiency

Orpha code: 70594OMIM code: 612716

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
-

No additional description.

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