label: dopa-responsive dystonia due to sepiapterin reductase deficiency
label_lc: dopa-responsive dystonia due to sepiapterin reductase deficiency
description: "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."