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Dopa responsive dystonia due to sepiapterin reductase deficiency

Orpha number ORPHA70594
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Sepiapterin reductase deficiency is a member of the group of tetrahydrobiopterin deficiencies without hyperphenylalaninemia. In the majority of cases, onset occurs during childhood and is characterised principally by progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The prevalence is unknown. Transmission is autosomal recessive.


Last update: January 2006

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Detailed information
Clinical practice guidelines
  • EN (2011)Patient Inform
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