Progressive myoclonic epilepsy (PME): clinical features

Evidence-based neurology checklist on progressive myoclonic epilepsy (pme): clinical features: Myoclonic seizures These manifest as cortical reflex myoclonus They are stimulus sensitive: to light, sound, and touch They are fragmentary and multifocal They especially occur in the face and distal…

Myoclonic seizures

  • These manifest as cortical reflex myoclonus
  • They are stimulus sensitive: to light, sound, and touch
  • They are fragmentary and multifocal
  • They especially occur in the face and distal limbs
  • They may present as massive bilateral proximal myoclonus

Other seizure types: in Lafora body disease

Cerebellar features

Ophthalmic features

Other neurological features

Other features

References

  1. Cameron JM, Ellis CA, Berkovic SF, et al. ILAE genetics literacy series: progressive myoclonus epilepsies. Epileptic Disord 2023 (Online ahead of print).
  2. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.

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