Progressive myoclonic epilepsy

Abstract

Progressive myoclonic epilepsies (PMEs) are a group of rare disorders characterized by the occurrence of seizures, myoclonus, and progressive neurological dysfunction. This article discusses epidemiology, genetics, pathology, clinical manifestations, EEG characteristics, methods of diagnosis and treatment of the most common causes of PME, including Unverricht-Lundborg Disease (Baltic Myoclonus), MERRF, neuronal ceroid lipofuscinosis, dentatorubropallidoluysan atrophy, Gaucher disease, Lafora disease, and sialidosis. The aim of this paper is to provide clinicians with useful clinical information in order to facilitate the diagnosis and treatment of these rare diseases.

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Zupanc, M.L., Legros, B. Progressive myoclonic epilepsy. Cerebellum 3, 156 (2004). https://doi.org/10.1080/14734220410035356

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Keywords

  • progressive myoclonic epilepsy
  • myoclonus
  • Unverricht
  • Lundborg Disease
  • Baltic Myoclonus
  • MERRF
  • neuronal ceroid lipofuscinosis
  • DRPLA
  • Gaucher disease
  • Lafora disease
  • sialidosis