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Disease definition

A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.


Classification level: Disorder
  • Synonym(s):
    • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
    • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Mitochondrial inheritance or Not applicable 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.3
  • OMIM: 540000
  • UMLS: C0162671
  • MeSH: D017241
  • GARD: 7009
  • MedDRA: 10053872

Detailed information

Article for general public


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