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Rapid-onset dystonia-parkinsonism

Orpha number ORPHA71517
Synonym(s) DYT12
Dystonia 12
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Adolescence / Young adulthood
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Rapid-onset dystonia-parkinsonism (RDP) is characterized by abrupt onset of dystonia and parkinsonism in young adults. The exact prevalence is unknown. So far, a few families have been reported worldwide. The main clinical manifestations include sudden orofacial dystonia, dysarthria, dysphagia, involuntary dystonic spasms (predominantly of the upper limbs) and parkinsonism (bradykinesia, rigidity and postural instability). The clinical course is stationary or moderately progressive, but the disease may lead to serious disability. RDP is caused by mutations in the ATP1A3 gene (19q12-q13.2) and is transmitted in an autosomal dominant manner.


Last update: April 2009

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Detailed information
Clinical practice guidelines
  • EN (2011)Patient Inform
Clinical genetics review
  • EN (2012)
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