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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Dopa-responsive dystonia due to sepiapterin reductase deficiency?
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