oculopharyngodistal myopathy 5
MONDO:0980937Mondo
Findings
No curated finding names oculopharyngodistal myopathy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- PtosisHPOHP:0000508
- 24 of 24 reported patients
- Rimmed vacuolesHPOHP:0003805
- 8 of 10 reported patients
- DysphagiaHPOHP:0002015
- 17 of 22 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 16 of 21 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 16 of 21 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 17 of 23 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 14 of 20 reported patients
- DysarthriaHPOHP:0001260
- 13 of 20 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 11 of 21 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 5 of 20 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- Increased endomysial connective tissueHPOHP:0100297
Show the remaining 2
- Internally nucleated skeletal muscle fibersHPOHP:0031237
- Muscle fiber splittingHPOHP:0003555
Where it sits
- A kind of