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.

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Movement disorder (98) Dystonic disorder (62) Inborn errors of metabolism (45) Human disease (14) Hereditary neurological disease (6) Inborn disorder of amino acid metabolism (4)

Trials to join now! 11 Not yet finished but already full! 1 Completed 3

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

Broader categories

Newborn screening study aims to catch rare diseases at birth