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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.
Features include: Spontaneous esophageal perforation, Abnormality of metabolism/homeostasis, Ptosis, and Malnutrition and 7 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 4 | Spontaneous esophageal perforation, Abdominal distention, Abdominal pain |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for oculogastrointestinal muscular dystrophy.
13 publications have been identified in PubMed for oculogastrointestinal muscular dystrophy. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 54% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1 |
Abnormality of metabolism/homeostasis |
Eyes | 1 | Ptosis |
Brain and nerves | 1 | Peripheral neuropathy |
Research summaries
3 |
23% |
Laboratory research | 3 | 23% |
Noguchi A (2026). [PMID: 41380969](https://pubmed.ncbi.nlm.nih.gov/41380969/). *J Biol Chem*. [Basic Science / Preclinical]
Ilyasova A (2026). [PMID: 41717716](https://pubmed.ncbi.nlm.nih.gov/41717716/). *J Investig Med High Impact Case Rep*. [Case Report / Case Series]
Capece G (2026). [PMID: 41841518](https://pubmed.ncbi.nlm.nih.gov/41841518/). *Eur J Neurol*. [Case Report / Case Series]
Xia Y (2026). [PMID: 42185572](https://pubmed.ncbi.nlm.nih.gov/42185572/). *Neurol Sci*. [Case Report / Case Series]
Finn LS (2025). [PMID: 39982139](https://pubmed.ncbi.nlm.nih.gov/39982139/). *Pediatr Dev Pathol*. [Review / Meta-Analysis]
Xu X (2025). [PMID: 40826089](https://pubmed.ncbi.nlm.nih.gov/40826089/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Zhang XY (2025). [PMID: 40755271](https://pubmed.ncbi.nlm.nih.gov/40755271/). *Zhongguo Yi Xue Ke Xue Yuan Xue Bao*. [Case Report / Case Series]
Bhagat K (2025). [PMID: 40111159](https://pubmed.ncbi.nlm.nih.gov/40111159/). *J Phys Chem B*. [Basic Science / Preclinical]
Bax BE (2025). [PMID: 41009664](https://pubmed.ncbi.nlm.nih.gov/41009664/). *Int J Mol Sci*. [Basic Science / Preclinical]
Unal S (2025). [PMID: 38129692](https://pubmed.ncbi.nlm.nih.gov/38129692/). *Int J Impot Res*. [Review / Meta-Analysis]