MedGen

Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia See also EKD2 (611031), which maps to chromosome 16q13-q22.1, and EKD3 (620245), caused by mutation in the TMEM151A gene (620108) on chromosome 11q13. [from OMIM]

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [from NCI]