Progressive myoclonic epilepsy type 1

Go to external page http://www.orpha.net/ORDO/Orphanet_308


A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

Synonyms:

Progressive myoclonus epilepsy type 1

EPM1

Unverricht-Lundborg disease

ULD

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308
hasDbXref
  • OMIM:612437
  • MeSH:D020194
  • MedDRA:10054895
  • OMIM:310370
  • OMIM:254800
  • ICD-10:G40.3
  • UMLS:C0751785
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
  • http://www.orpha.net/ORDO/Orphanet_409947
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
notation
  • ORPHA:308
part of
  • http://www.orpha.net/ORDO/Orphanet_98261
  • http://www.orpha.net/ORDO/Orphanet_611314
present in
  • http://www.orpha.net/ORDO/Orphanet_410065