Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency
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.
Also known as autosomal recessive sepiapterin reductase-deficient DRD, dopa-responsive dystonia due to sepiapterin reductase deficiency, DRD due to SRD, DYT-SPR, Sepiapterin Reductase Deficiency, SPR deficiency, SRD — per MONDO