Living with Mitochondrial neurogastrointestinal encephalomyopathy
A condition (MNGIE) that mainly affects the digestive system and nervous system, with digestive problems, weight loss, and nerve symptoms.
Understanding Mitochondrial neurogastrointestinal encephalomyopathy
Almost everyone has slow movement of food through the digestive tract. This can cause feeling full early, nausea, vomiting after eating, belly pain or bloating, and diarrhea. People may also have severe weight loss, drooping eyelids or other eye muscle weakness, nerve problems (tingling, numbness, weakness mostly in the legs), and hearing loss. Brain white matter changes are common but usually do not cause symptoms. It starts anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow movement of food through the gut (dysmotility)
- Belly pain and bloating
- Nausea and diarrhea
- Drooping upper eyelids (ptosis)
- Nerve damage causing numbness and weakness
- Foot drop
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 brain and nervous system specialists, 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.
- 4Connect with expert centers
Association of Gastrointestinal Motility Disorders, United Leukodystrophy Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Association of Gastrointestinal Motility Disorders, United Leukodystrophy Foundation, Epilepsy Foundation
- 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 Association of Gastrointestinal Motility Disorders and other patient organizations
- 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
This condition is caused by changes in the TYMP gene, which helps keep thymidine at healthy levels in mitochondria. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mitochondrial neurogastrointestinal encephalomyopathy syndrome; mitochondrial neurogastrointestinal encephalopathy; mitochondrial neurogastrointestinal encephalopathy syndrome; mitochondrial neurogastrointestingal encephalopathy; mngie; mngie syndrome
Patient organizations
- Association of Gastrointestinal Motility DisordersMitochondrial neurogastrointestinal encephalomyopathy · United States
- United Leukodystrophy FoundationMitochondrial neurogastrointestinal encephalomyopathy · United States
- AGA GI Patient CenterMitochondrial neurogastrointestinal encephalomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Mitochondrial neurogastrointestinal encephalomyopathy.
Explore research for Mitochondrial neurogastrointestinal encephalomyopathy
Explore actively recruiting Mitochondrial neurogastrointestinal encephalomyopathy studies with HealthSpark.
Find actively recruiting studies for Mitochondrial neurogastrointestinal encephalomyopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mitochondrial neurogastrointestinal encephalomyopathy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mitochondrial neurogastrointestinal encephalomyopathy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mitochondrial neurogastrointestinal encephalomyopathy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.