Overview
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (often called adult-onset CPEO with myopathy) is a rare condition that affects the muscles, particularly those that control eye movement and the eyelids. It is caused by problems in the mitochondria, which are the tiny energy-producing structures inside every cell of your body. When mitochondria don't work properly, the muscles that need the most energy are usually affected first. The hallmark symptoms are a gradual drooping of the eyelids (called ptosis) and a progressive inability to move the eyes fully in all directions (ophthalmoplegia). Because this form begins in adulthood, many people notice these eye problems developing slowly in their 20s, 30s, or later. Over time, weakness can spread to other muscles in the body, particularly those in the limbs and sometimes the throat, leading to difficulty swallowing or exercise intolerance. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining quality of life. This may include surgery to correct eyelid drooping, physical therapy to preserve muscle strength, and supportive care from a team of specialists. Some patients are given supplements like coenzyme Q10 or L-carnitine to support mitochondrial function, though strong evidence for their effectiveness is limited. Research into mitochondrial disease therapies is ongoing and offers hope for future treatments.
Also known as:
Key symptoms:
Drooping eyelids (ptosis)Difficulty moving the eyes in all directionsMuscle weakness in the arms and legsExercise intolerance and easy fatigueDifficulty swallowing (dysphagia)Double visionGeneralized muscle wastingWeakness in facial musclesDifficulty with physical activities like climbing stairsHearing loss in some casesHeart rhythm problems in some casesReduced stamina and endurance
Clinical phenotype terms (32)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventRalitza Gavrilova — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
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 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
Community
No community posts yet. Be the first to share your experience with Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
Start the conversation →Latest news about Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
No recent news articles for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy.
Follow this condition to be notified when news becomes available.
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?,Are there any medications or substances I should avoid because of my mitochondrial disease?,Should I have my heart checked regularly, and how often?,Would supplements like coenzyme Q10 or L-carnitine be helpful for me?,What are my options for managing my drooping eyelids?,Are there any clinical trials or new treatments I should know about?
Common questions about Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
What is Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy?
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (often called adult-onset CPEO with myopathy) is a rare condition that affects the muscles, particularly those that control eye movement and the eyelids. It is caused by problems in the mitochondria, which are the tiny energy-producing structures inside every cell of your body. When mitochondria don't work properly, the muscles that need the most energy are usually affected first. The hallmark symptoms are a gradual drooping of the eyelids (called ptosis) and a progressive inability to move the eyes fully in
At what age does Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy typically begin?
Typical onset of Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy?
Yes — 1 recruiting clinical trial is currently listed for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.