Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia

Introduction - We compared the clinical manifestations and response to medi cations between familial and sporadic patients with paroxysmal kinesigenic dyskinesia (PKD), and also between patients with autosomal dominant (AD) an d autosomal recessive (AR) inheritance. Material and methods - This retrosp ective cohort study included 9 familial and 11 sporadic Taiwanese patients with PKD diagnosed during a 10-year period at one of two hospitals. The mea n duration of follow-up was 3.8+/-2.7 years. Each patient was interviewed a nd their medical records, as well as videotape recordings of PKD attacks in 6 patients, were used for analysis. Patients were treated with either carb amazepine or phenytoin, and the efficacy of sodium valproate was tested in 5 patients. Results - No single distinguishing feature in terms of clinical manifestations or therapeutic response was found to differentiate among fa milial, 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 remis sion of attacks. Conclusion - Our findings indicate that the sporadic and f amiliar forms of PKD, as well as the AR and AD inherited types, are similar in terms of clinical manifestations and response to treatment. The functio nal status and prognosis of our Taiwanese patients suggest that PKD is a re latively benign entity.