Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

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Synonyms: DYT9 | Episodic choreoathetosis/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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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