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Mitochondrial myopathy-lactic acidosis-deafness syndrome

Disease definition

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

ORPHA:2597

Classification level: Disorder
  • Synonym(s):
    • Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Childhood
  • ICD-10: G71.3
  • OMIM: 251950
  • UMLS: C1855033
  • MeSH: C537476
  • GARD: 3682
  • MedDRA: -

Additional information

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