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Mitochondrial DNA-related cardiomyopathy and hearing loss

Disease definition

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

ORPHA:1349

Classification level: Disorder
  • Synonym(s):
    • Maternally-inherited cardiomyopathy and deafness
    • mtDNA-related cardiomyopathy and hearing loss
    • tRNA-LYS-related cardiomyopathy-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Childhood, Adult
  • ICD-10: E88.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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