oculopharyngeal muscular dystrophy
Findings
No curated finding names oculopharyngeal muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Definition from the Mondo Disease Ontology (MONDO:0008116), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal muscle fiber morphologyHPOHP:0004303
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- OphthalmoplegiaHPOHP:0000602
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Ragged-red muscle fibersHPOHP:0003200
- Very frequent (80% to 99% of cases)
- Rimmed vacuolesHPOHP:0003805
- Very frequent (80% to 99% of cases)
- SpondylolisthesisHPOHP:0003302
- Very frequent (80% to 99% of cases)
- Angulated muscle fibersHPOHP:0034045
- Frequent (30% to 79% of cases)
- Axial muscle weaknessHPOHP:0003327
- Frequent (30% to 79% of cases)
- DysphoniaHPOHP:0001618
- Frequent (30% to 79% of cases)
Show the remaining 14
- Fatty replacement of skeletal muscleHPOHP:0012548
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Limb-girdle muscle weaknessHPOHP:0003325
- Frequent (30% to 79% of cases)
- Muscle fiber intranuclear inclusion bodiesHPOHP:0100304
- Frequent (30% to 79% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- Reduced forced expiratory volume in one secondHPOHP:0032342
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: oculopharyngeal muscular dystrophy
- Also called
- OPMD