Disease & disorder

episodic kinesigenic dyskinesia 1

MONDO:0100352

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Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

Paroxysmal kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD), also called paroxysmal kinesigenic choreoathetosis (PKC), is a rare hyperkinetic movement disorder of the paroxysmal dyskinesias characterized by attacks (paroxysms) of involuntary movements, which are triggered by sudden voluntary movements. The number of attacks can increase during puberty and decrease in a person's 20s to 30s. Involuntary movements can take many forms such as ballism, chorea or dystonia and usually only affect one side of the body or one limb in particular. There are two types of PKD, primary and secondary. Primary PKD can be further broken down into familial and sporadic. Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen. Secondary PKD can be caused by many other medical conditions such as multiple sclerosis (MS), stroke, pseudohypoparathyroidism, hypocalcemia, hypoglycemia, hyperglycemia, central nervous system trauma, or peripheral nervous system trauma. PKD has also been linked with infantile convulsions and choreoathetosis (ICCA) syndrome, in which patients have afebrile seizures during infancy (benign familial infantile epilepsy) and then develop paroxysmal choreoathetosis later in life. This phenomenon is actually quite common, with about 42% of individuals with PKD reporting a history of afebrile seizures as a child. PKD affects about 1 in 150,000 people. It accounts for 86.8% of all the types of paroxysmal dyskinesias and occurs more often in males than females.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.