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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Disease definition

A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.

ORPHA:53583

Classification level: Disorder
  • Synonym(s):
    • DYT9
    • Episodic choreoathetosis/spasticity
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G24.8
  • OMIM: 601042
  • UMLS: C1832855
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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