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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Disease definition

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

Classification level: Disorder
  • 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: C4511138
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2016) Français (2016) Italiano (2016) Nederlands (2016)

Detailed information

General public

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.