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Adult-onset dystonia-parkinsonism

Disease definition

Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

ORPHA:199351

  • Synonym(s):
    • Dystonia-parkinsonism, Paisan-Ruiz type
    • PARK14
    • PLA2G6-related dystonia-parkinsonism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G24.1
  • OMIM: 612953
  • UMLS: -
  • MeSH: -
  • GARD: 12568
  • MedDRA: -

Detailed information

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