Rare diseases · Sign or symptom
Ophthalmoplegia
Eye muscle paralysis
HP:0000602
What it means
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Rare diseases that can present with this56
Very common80–99%
9- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Bickerstaff brainstem encephalitis
- Epidermolysis bullosa simplex with muscular dystrophy
- Gaucher disease type 2
- Gaucher disease type 3
- Infantile-onset spinocerebellar ataxia
- Moebius syndrome
- Oculopharyngeal muscular dystrophy
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Common30–79%
13- Autosomal dominant optic atrophy, classic form
- Autosomal dominant progressive external ophthalmoplegia
- Christianson syndrome
- Combined oxidative phosphorylation defect type 7
- Congenital myasthenic syndrome
- Leigh syndrome
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- Neuronal intranuclear inclusion disease
- Presynaptic congenital myasthenic syndrome
- Recessive mitochondrial ataxia syndrome
- Retinitis pigmentosa
- Spinocerebellar ataxia type 7
- Sudden infant death-dysgenesis of the testes syndrome
Sometimes5–29%
28- Acetazolamide-responsive myotonia
- Acromegaly
- Atypical Gaucher disease due to saposin C deficiency
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive spastic paraplegia type 55
- Central core disease
and 20 more in this range
The 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Paralysis of extraocular eye movement
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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.