Juvenile myoclonic epilepsy: Under-diagnosed syndrome

INTRODUCTION: Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. ETIOPATHOGENESIS: The exact cause of juvenile myoclonic epilepsy remains unknown. Clinical, morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. Several major genes for juvenile myoclonic epilepsy have been identified, but these genes account for only a small proportions of juvenile myoclonic epilepsy cases, suggesting multifactorial or complex inheritance in most. CLINICAL MANIFESTATIONS: Juvenile myoclonic epilepsy is characterized by the triad of myoclonic jerks on awakening (all patients), generalized tonic-clonic seizures (> 90% of patients) and typical absences (about one third of patients). Seizures have an age-related onset, circadian distribution and are frequently precipitated by sleep deprivation, fatigue and alcohol intake. Intelligence is normal. DIAGNOSIS: Juvenile myoclonic epilepsy diagnosis is based upon clinical criteria and typical electroencephalographic findings (generalized pattern of spikes and/or polyspikes and waves). All other tests are normal. TREATMENT AND PROGNOSIS: Both medical treatment and counselling are important in the management of juvenile myoclonic epilepsy. Mono-therapy with valproate is the preferred treatment. Some of the newer antiepileptic drugs have been suggested as possible alternatives. Juvenile myoclonic epilepsy has a good prognosis. Lifelong treatment is usually considered necessary in vast majority of patients due to the increased risk of relapse if treatment is discontinued. CONCLUSION: Juvenile myoclonic epilepsy is a common, although under-diagnosed epileptic syndrome. The clinician should study the occurrence of myoclonic jerks and should consider atypical presentations.