oculogastrointestinal muscular dystrophy
MONDO:0010181Mondo
Findings
No curated finding names oculogastrointestinal muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.
Definition from the Mondo Disease Ontology (MONDO:0010181), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormal gastric mucosa morphologyHPOHP:0004295
- Very frequent (80% to 99% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- External ophthalmoplegiaHPOHP:0000544
- Very frequent (80% to 99% of cases)
- GastroparesisHPOHP:0002578
- Very frequent (80% to 99% of cases)
- Intestinal pseudo-obstructionHPOHP:0004389
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Spontaneous esophageal perforationHPOHP:0005203
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Abnormal mitral valve morphologyHPOHP:0001633
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: oculogastrointestinal muscular dystrophy
- Also called
- visceral myopathy-familial external ophthalmoplegia syndrome