Paroxysmal Kinesigenic Choreoathetosis Clinical Trial
Official title:
Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study
The aim of this study is to assess the prognosis of paroxysmal kinesigenic choreoathetosis (PKC) in Korean.
PKC is a hyperkinetic movement disorder including dystonia, chorea, athetosis, or ballism,
which are characteristically triggered by a sudden movement from rest. The prevalence of this
disorder is estimated to be 1 in 150,000 population. Males are more commonly affected than
females, and the age of onset is typically in childhood or adolescence. PKC is mainly a
familial disorder with autosomal dominant inheritance and incomplete penetrance, but it can
occur sporadically. The PRRT2 (proline-rich transmembrane protein 2) gene is believed to be
the major causative gene.
The prognosis of PKC is usually favorable. The severity and frequency of the attacks are
reduced by anticonvulsant medication such as carbamazepine, and the number of the attacks
decreases at the age of 20-30 years. However, there has been little study of long-term
prognosis of PKC, and no study has been conducted in Korean population.
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