Progressive myoclonic epilepsy

Abstract

Progressive myoclonic epilepsy (PME) is a group of rare diseases characterized clinically by epileptic seizures, myoclonus, cerebellar syndrome, and cognitive decline. The main types of PME diseases are: (ULD) disease; Lafora disease; Myoclonic epilepsies with ragged red fibers (MERRF); Cerebral lipofuschinoses and Scialidoses. PMEs have a strong genetic component. Several genes were identified such as dodecamer expansion in ULD or PME1 and gene coding for laforine or maline in Lafora disease (PME2A). ULD is the most common form of PME and is the most widespread in the Maghreb countries. Despite the general consensus, it is actually a spectrum of variable clinical phenotypes with a higher intra and interfamilial variability and a milder evolution compared to other PMEs. In this report, we will focus my discussion on recent advances in the early stage of ULD and describe functional and vital prognosis in this PME form.