Rare diseases · Sign or symptom
Progressive external ophthalmoplegia
HP:0000590
What it means
Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term.
Rare diseases that can present with this17
Very common80–99%
9- DNA2-related mitochondrial DNA deletion syndrome
- Kearns-Sayre syndrome
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Mitochondrial DNA-related progressive external ophthalmoplegia
- Oculopharyngodistal myopathy
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Spinocerebellar ataxia type 3
Common30–79%
4The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: External ophthalmoplegia, progressive
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.