Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

What is Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity?

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.

Other condition names

  • DYT9
  • Episodic choreoathetosis/spasticity

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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