Overview
Progressive external ophthalmoplegia-myopathy-emaciation syndrome (Orphanet code 352447) is a very rare condition that affects the muscles and energy systems of the body. It belongs to a group of disorders caused by problems with mitochondria, the tiny power plants inside every cell that produce energy. The hallmark features of this syndrome include progressive external ophthalmoplegia (PEO), which means the muscles that move the eyes gradually become paralyzed, leading to drooping eyelids (ptosis) and difficulty moving the eyes in different directions. In addition to the eye muscle problems, patients develop widespread muscle weakness (myopathy) that can affect the limbs and other parts of the body. A particularly concerning feature is severe weight loss and muscle wasting (emaciation), which can significantly impact a person's strength and overall health. Because mitochondria supply energy to nearly every tissue, symptoms can extend beyond the muscles to affect other organs. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting nutrition, and maintaining function for as long as possible. Physical therapy, nutritional support, and regular monitoring by a team of specialists are important parts of care. Research into mitochondrial diseases is ongoing, and some experimental therapies are being explored.
Also known as:
Key symptoms:
Drooping eyelids (ptosis)Difficulty moving the eyesDouble visionGeneralized muscle weaknessSevere weight loss and muscle wastingExercise intolerance and easy fatigueDifficulty swallowingLimb weaknessPoor balance and coordinationBreathing difficulties in advanced stagesReduced stamina and endurance
Clinical phenotype terms (32)— hover any for plain English
Mitochondrial
Passed from mother to child through the energy-producing parts of the cell
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Progressive external ophthalmoplegia-myopathy-emaciation syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Progressive external ophthalmoplegia-myopathy-emaciation syndrome.
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 Progressive external ophthalmoplegia-myopathy-emaciation syndrome.
Community
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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 mutation is causing my condition, and does it affect my family members?,How quickly is this disease likely to progress in my case?,What supplements or medications might help support my mitochondrial function?,What medications or substances should I avoid because they could worsen my condition?,How should I manage my nutrition and weight to prevent further muscle wasting?,When should I consider respiratory support or a feeding tube?,Are there any clinical trials or experimental treatments I might be eligible for?
Common questions about Progressive external ophthalmoplegia-myopathy-emaciation syndrome
What is Progressive external ophthalmoplegia-myopathy-emaciation syndrome?
Progressive external ophthalmoplegia-myopathy-emaciation syndrome (Orphanet code 352447) is a very rare condition that affects the muscles and energy systems of the body. It belongs to a group of disorders caused by problems with mitochondria, the tiny power plants inside every cell that produce energy. The hallmark features of this syndrome include progressive external ophthalmoplegia (PEO), which means the muscles that move the eyes gradually become paralyzed, leading to drooping eyelids (ptosis) and difficulty moving the eyes in different directions. In addition to the eye muscle problems,
How is Progressive external ophthalmoplegia-myopathy-emaciation syndrome inherited?
Progressive external ophthalmoplegia-myopathy-emaciation syndrome follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.