Living with Oculogastrointestinal muscular dystrophy
An extremely rare inherited muscle disease that starts with droopy eyelids and double vision, then leads to digestive problems.
Understanding Oculogastrointestinal muscular dystrophy
It begins with droopy eyelids (ptosis) and double vision, followed by long-lasting diarrhea, poor nutrition, and a condition where the intestines stop moving food along as they should (intestinal pseudo-obstruction). GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Droopy upper eyelids (ptosis)
- Weak eye muscles (external ophthalmoplegia)
- Intestinal pseudo-obstruction
- Poor absorption of nutrients (malabsorption)
- Slow stomach emptying (gastroparesis)
- Belly bloating
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: intestinal pseudoobstruction with external ophthalmoplegia; visceral myopathy with familial external ophthalmoplegia syndrome; visceral myopathy-familial external ophthalmoplegia syndrome
Patient organizations
- Pull-thru NetworkOculogastrointestinal muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculogastrointestinal muscular dystrophy.
Explore research for Oculogastrointestinal muscular dystrophy
Explore actively recruiting Oculogastrointestinal muscular dystrophy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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