oculopharyngeal muscular dystrophy 1
MONDO:0958176Mondo
Findings
No curated finding names oculopharyngeal muscular dystrophy 1 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
- Late onset · Progressive
HPO, annotations 2026-09-02
Features
8 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.
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient · Late onset
- Hypernasal speechHPOHP:0001611
- 1 of 1 reported patient
- Progressive ptosisHPOHP:0007838
- 6 of 6 reported patients · Late onset
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient · Late onset
- PtosisHPOHP:0000508
- 1 of 1 reported patient · Late onset
- DysphagiaHPOHP:0002015
- 3 of 7 reported patients · Late onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 0 of 1 reported patient
- Ragged-red muscle fibersHPOHP:0003200
- 0 of 1 reported patient
Genes
1 gene
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.
- PABPN1HGNC:8565
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of