Dopa-responsive dystonia due to sepiapterin reductase deficiency

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Synonyms: Autosomal recessive sepiapterin reductase-deficient DRD | DRD due to SRD | SPR deficiency | 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Dopa-responsive dystonia due to sepiapterin reductase deficiency?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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