Possible posterior hypometabolism in early stages Lafora bodies in skin biopsy or EPM2A mutation Mild/late or absent psychosis (visual and auditory hallucinations) The consensus helped to define the various types of PMEs known at that time and set the agenda for a new era of genetic research, which soon led to the discovery of many PME genes. The recent history of PMEs begins in 1989 with a consensus statement published in the wake of the Marseille PME workshop. The rarity and complexity of the disorders that cause PMEs have resulted in a confusing literature since the first description, a century ago ( Table 1) ( Table 2). PMEs are disorders with debilitating evolution, resistance to treatment and poor prognosis, and it is estimated that these diseases are responsible for up to 1% of epileptic syndromes in children and adolescents around the world. The Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders (mainly autosomal recessive), characterised by myoclonus, generalized epilepsy, and progressive neurological deterioration, including dementia and ataxia.
This emerging picture and biological insights will allow us to find ways to provide the patients with meaningful treatment.ġ. Definition and history of progressive myoclonus epilepsies The history of PMEs revealed that the international collaboration and sharing experience is the right way to proceed. The prognosis of a PME depends on the specific disease.
The response to therapy may initially be relatively favourable, afterwards however, seizures may become more frequent, and progressive neurologic decline occurs. Treatment of PMEs remains essentially symptomaticof seizures and myoclonus, together with palliative, supportive, and rehabilitative measures. Thus, aetiology is undetermined in many patients, despite the advance in molecular medicine. PMEs are uncommon disorders, difficult to diagnose in the absence of extensive experience. The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers, and type 1 and 2 sialidoses) have been identified. A combination of positive and negative myoclonus is typical of PMEs.
Neurophysiologic recordings are suited to describe faithfully the time course of the shock-like muscle contractions which characterize myoclonus. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia.
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