Paroxysmal kinesigenic choreoathetosis

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Disease Overview

Paroxysmal kinesigenic choreoathetosis involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled.[8966] Cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases.[8967] The exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions, writhing motions, or fast, “dance-like” motions. One or both sides of the body may be affected. The episodes can sometimes be preceded by a crawling or tingling sensation in the affected body part and do not involve a loss of consciousness.[8966][8967] Individuals with paroxysmal kinesigenic choreoathetosis usually begin to show signs and symptoms of the disorder during childhood or adolescence. Episodes typically last less than 5 minutes, though they may last up to several hours. The frequency of episodes ranges from one per month to 100 per day. In most cases, the episodes occur less often with age.[8966][8967]


Synonyms

  • Dystonia 10
  • Episodic kinesigenic dyskinesia 1
  • Familial paroxysmal kinesigenic dyskinesia
  • Familial PKD
  • Paroxysmal kinesigenic choreathetosis
  • DYT-PRRT2
  • Paroxysmal kinesigenic dyskinesia

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National Organization for Rare Disorders