Progressive myoclonus epilepsies in clinical practice Volume 15, issue 3, Juillet 2003


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Centre Saint‐Paul, Marseille, France

The progressive myoclonus epilepsies (PME) are rare diseases, representing less than 1 % of all epilepsies. They are characterized by generalized epileptic seizures (although focal seizures may also occur in certain etiologic forms of PME), an invalidating myoclonus, and other neurological symptoms (ataxia, dementia, sensory deficits) that vary widely according to the various etiologies. Indeed, PMEs are a heterogenous group of genetically determined conditions, with diverse etiologies and a most irregular prevalence. In France, the commonest forms are Unverricht‐Lundborg‘s disease and Lafora‘s disease, but some recently identified entities, which were thought to be very uncommon, are beginning to be recognized as well in Western Europe. Important progress has occurred in the understanding of the genetic and biochemical mechanisms of PMEs. It is nowadays possible to set up a logical diagnostic procedure that will take into account the ethnic and genetic context and the age at onset of symptoms. The respective weight of symptoms is also of paramount importance in the orientation of diagnostic procedures. Invasive procedures have been replaced, in most instances, by atraumatic assessments, mostly genetic and biochemical. A rational approach to the treatment of PMEs using to their best potential the available agents is also possible, but further progress is expected, that will result from new methods of gene therapy and other new approaches.