Dopa-responsive dystonia due to sepiapterin reductase deficiency

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Dopa-responsive dystonia due to sepiapterin reductase deficiency

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 September 2023.

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Dopa-responsive dystonia due to sepiapterin reductase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.