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Lafora disease

ORPHA501
Synonym(s) EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
ICD-10
  • G40.3
OMIM
UMLS
  • C0751783
MeSH
  • D020192
MedDRA
  • 10054030

Summary

Disease definition

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

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Detailed information

Emergency guidelines
Review article
Clinical genetics review
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