Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia

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We compared the clinical manifestations and response to medications between familial and sporadic patients with paroxysmal kinesigenic dyskinesia (PKD), and also between patients with autosomal dominant (AD) and autosomal recessive (AR) inheritance.

Material and methods

This retrospective cohort study included 9 familial and 11 sporadic Taiwanese patients with PKD diagnosed during a 10-year period at one of two hospitals. The mean duration of follow-up was 3.8±2.7 years. Each patient was interviewed and their medical records, as well as videotape recordings of PKD attacks in 6 patients, were used for analysis. Patients were treated with either carbamazepine or phenytoin, and the efficacy of sodium valproate was tested in 5 patients.


No single distinguishing feature in terms of clinical manifestations or therapeutic response was found to differentiate among familial, and sporadic cases, or between AD and AR inheritance. Carbamazepine and phenytoin were superior to sodium valproate in treating both familial and sporadic PKD patients, and both drugs resulted in almost complete remission of attacks.


Our findings indicate that the sporadic and familiar forms of PKD, as well as the AR and AD inherited types, are similar in terms of clinical manifestations and response to treatment. The functional status and prognosis of our Taiwanese patients suggest that PKD is a relatively benign entity.

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