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Up to: Inherited dystonia · Dopa-responsive dystonia · Tetrahydrobiopterin metabolic process disease
Dopa-responsive dystonia due to sepiapterin reductase deficiency
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.
This condition has no sub-types.