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Start free with EleplanAdult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ORPHA:329336Disease
Also called Adult-onset CPEO with mitochondrial myopathy
What it 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.
Key facts
- Age of onset
- Adult
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Classified as
- Disease
Signs and symptoms
Common30–79%
14- Areflexia of lower limbs
- Bilateral ptosis
- Difficulty climbing stairs
- Dysarthria
- Dysphagia
- Exercise-induced myalgia
- Fatigable weakness of respiratory muscles
- Feeding difficulties
- Hearing impairment
- High palate
- Myalgia
- Respiratory insufficiency due to muscle weakness
- Skeletal muscle atrophy
- Weakness of facial musculature
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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