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Progressive myoclonic epilepsy type 9

Disease definition

A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, venticulomegaly, interhemispheric cysts, and simplified gyration (frontally).

ORPHA:457265

Classification level: Disorder
  • Synonym(s):
    • EPM9
    • PME type 9
    • Progressive myoclonic epilepsy due to LMNB2 deficiency
    • Progressive myoclonus epilepsy type 9
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G40.3
  • OMIM: 616540
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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