oculopharyngeal myopathy with leukoencephalopathy 1
MONDO:0032843Mondo
Findings
No curated finding names oculopharyngeal myopathy with leukoencephalopathy 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
- Adult onset
HPO, annotations 2026-09-02
Features
12 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.
- Distal muscle weaknessHPOHP:0002460
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 4 of 4 reported patients
- PtosisHPOHP:0000508
- 6 of 6 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 4 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 3 of 4 reported patients
- DysphagiaHPOHP:0002015
- 4 of 6 reported patients
- Respiratory failureHPOHP:0002878
- 2 of 4 reported patients · Late onset
- AtaxiaHPOHP:0001251
- 1 of 4 reported patients
- TremorHPOHP:0001337
- 1 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- Gastrointestinal dysmotilityHPOHP:0002579
Where it sits
- A kind of