Juvenile myoclonic epilepsy: a study in Sri Lanka

Juvenile myoclonic epilepsy (JME) has a distinct clinical profile. Often JME is not recognized, with the result that proper treatment is not instituted, leading to poor control of seizures. This study is an attempt to identify the factors that contribute to the delay in diagnosing this condition. During a period of 3 years 40 patients (21 females) with JME were identified and all were included in a prospective follow-up study. The age range was 12-58 years. Twenty-seven patients (67%) had already seen at least one specialist; however, diagnosis had not been made despite the presence of characteristic features. The duration of delay in diagnosis varied from months to years with a mean of 11 years. Myoclonic jerks were the most characteristic feature, but only six volunteered this information spontaneously. The response to treatment with sodium valproate was excellent, although only three were taking it when first seen. As a result of treatment with other drugs all patients were having recurrent seizures. The main reasons for the delay in diagnosis found in our study were that the physicians were unaware of the condition, the occurrence of myoclonic jerks were overlooked either because the patients were not directly questioned about them or because the patients did not volunteer the information.