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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Disease definition

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ORPHA:329336

  • Synonym(s):
    • Adult-onset CPEO with mitochondrial myopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Mitochondrial inheritance 
  • Age of onset: Adult
  • ICD-10: G71.3
  • OMIM: 616479
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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