Dopa-responsive dystonia due to sepiapterin reductase deficiency

MONDO:0012994

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: DRD due to SRD, DYT-SPR, SPR deficiency, SRD, Sepiapterin Reductase Deficiency, autosomal recessive sepiapterin reductase-deficient DRD, dopa-responsive dystonia due to sepiapterin reductase deficiency, sepiapterin reductase deficiency

15 clinical trials for this condition and its sub-types, 1 tagged with Dopa-responsive dystonia due to sepiapterin reductase deficiency itself.

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↑ Inherited dystonia (36) ↑ Dopa-responsive dystonia (2) ↑ Tetrahydrobiopterin metabolic process disease (1)

Including sub-types (15) Tagged with Dopa-responsive dystonia due to sepiapterin reductase deficiency (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth