Progressive Myoclonic Epilepsy

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Part of the Current Clinical Neurology book series (CCNEU)


Myoclonic seizures are epileptic seizures in which the main manifestation is myoclonus. Myoclonus is accompanied by a generalized epileptiform discharge but the myoclonus may be generalized, segmental, or focal. Progressive myoclonic epilepsies (PMEs) are an unusual and heterogeneous group of epilepsies with debilitating progression, resistance to conventional treatment, and poor prognosis. Although initial manifestations may be similar to idiopathic generalized epilepsies or juvenile myoclonic epilepsy, therapeutic failure and progressive worsening of neurological signs suggest PME. Despite its broad clinical spectrum, PME has several distinctive clinical characteristics including myoclonus, multiple seizure types, delay or regression in psychomotor development, and cerebellar signs.


Status Epilepticus Psychomotor Development Myoclonic Epilepsy Neuronal Ceroid Lipofuscinosis Cerebellar Sign 
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Supplementary material

The patient exhibits multifocal action myoclonus involving the face, trunk, and extremities. (Video contribution from Dr. AV. Delgado-Escueta, UCLA.)

Progressive myoclonic epilepsy.mp4 (MP4 18,869KB)


  1. 1.
    Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 2005;4:239–48.PubMedCrossRefGoogle Scholar
  2. 2.
    Delgado-Escueta AV. Advances in Lafora progressive myoclonus epilepsy. Curr Neurol Neurosci Rep. 2007;7:428–33.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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