Overview
Oculogastrointestinal muscular dystrophy (OGIMD), also known as oculogastrointestinal encephalopathy or sometimes referred to in the context of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like conditions, is an extremely rare inherited disorder that affects the eyes, the digestive system, and the muscles. The disease causes progressive weakness of the muscles that control eye movement (leading to drooping eyelids and difficulty moving the eyes), along with serious problems in the gastrointestinal tract such as chronic diarrhea, poor absorption of nutrients, abdominal pain, and episodes resembling intestinal blockage. Skeletal muscles throughout the body also become weak over time, which can affect walking and daily activities. Patients often experience significant weight loss and malnutrition because the digestive system does not work properly. Nerve damage (peripheral neuropathy) may also occur, causing tingling or numbness in the hands and feet. Some patients develop hearing loss or brain-related changes visible on MRI scans. There is currently no cure for oculogastrointestinal muscular dystrophy. Treatment focuses on managing symptoms, including nutritional support (sometimes through feeding tubes or intravenous nutrition), physical therapy to maintain muscle strength, and surgical interventions when intestinal complications become severe. Because the disease affects multiple organ systems, a team of specialists is needed to provide comprehensive care. Early diagnosis and proactive management of nutritional status and gastrointestinal symptoms can help improve quality of life.
Key symptoms:
Drooping eyelids (ptosis)Difficulty moving the eyesChronic diarrheaAbdominal pain and bloatingEpisodes resembling intestinal blockageProgressive muscle weaknessSignificant weight loss and malnutritionPoor absorption of nutrients from foodTingling or numbness in hands and feetDifficulty swallowingFatigue and low energyHearing lossThin body buildNausea and vomiting
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Oculogastrointestinal muscular dystrophy.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oculogastrointestinal muscular dystrophy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic test confirmed my diagnosis, and what does the result mean for my family?,How should we monitor and manage my nutritional needs over time?,What are the warning signs of a gastrointestinal emergency I should watch for?,Are there any clinical trials or experimental treatments available for my condition?,How often should I see each specialist, and how will my care be coordinated?,What can I do to maintain my muscle strength and mobility for as long as possible?,Should my family members be tested for this condition?
Common questions about Oculogastrointestinal muscular dystrophy
What is Oculogastrointestinal muscular dystrophy?
Oculogastrointestinal muscular dystrophy (OGIMD), also known as oculogastrointestinal encephalopathy or sometimes referred to in the context of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like conditions, is an extremely rare inherited disorder that affects the eyes, the digestive system, and the muscles. The disease causes progressive weakness of the muscles that control eye movement (leading to drooping eyelids and difficulty moving the eyes), along with serious problems in the gastrointestinal tract such as chronic diarrhea, poor absorption of nutrients, abdominal pain, an
How is Oculogastrointestinal muscular dystrophy inherited?
Oculogastrointestinal muscular dystrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Oculogastrointestinal muscular dystrophy?
2 specialists and care centers treating Oculogastrointestinal muscular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.