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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
- Article for general public
- Svenska (2016) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2017) - Neuromuscul Disord
- English (2017) - Genet Med
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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