Overview
Autosomal dominant mitochondrial myopathy with exercise intolerance is a rare genetic muscle disorder that affects how your muscles produce energy. Mitochondria are tiny structures inside your cells that act like power plants, converting food into the energy your muscles need to work. In this condition, a genetic change (mutation) disrupts the normal function of mitochondria in muscle cells, making it harder for muscles to keep up during physical activity. The hallmark symptom is exercise intolerance, meaning that even mild to moderate physical activity can cause unusual fatigue, muscle pain, cramping, or weakness. Some people may also experience episodes of muscle breakdown (called rhabdomyolysis) after exertion. Because the condition follows an autosomal dominant inheritance pattern, only one copy of the altered gene — inherited from one parent — is enough to cause the disease. There is currently no cure for this condition. Treatment focuses on managing symptoms, avoiding overexertion, and supporting overall muscle health. A team of specialists including neurologists and metabolic disease experts typically guides care. Research is ongoing to better understand the underlying mechanisms and develop more targeted therapies. Early diagnosis can help patients learn to manage their activity levels and reduce the risk of complications like severe muscle breakdown.
Key symptoms:
Exercise intolerance — getting unusually tired during physical activityMuscle weaknessMuscle pain or cramping during or after exerciseFatigue that seems out of proportion to the activityEpisodes of muscle breakdown (rhabdomyolysis)Dark-colored urine after exercise (a sign of muscle breakdown)Shortness of breath during exertionDifficulty with sustained physical activities like walking uphill or climbing stairsMuscle stiffnessGeneral low stamina or endurance
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant mitochondrial myopathy with exercise intolerance.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant mitochondrial myopathy with exercise intolerance.
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 Autosomal dominant mitochondrial myopathy with exercise intolerance.
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Caregiver Resources
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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 help predict how the disease will progress?,What types and levels of physical activity are safe for me?,Are there any supplements or medications that might help my symptoms?,What are the warning signs of rhabdomyolysis, and what should I do if they occur?,Should my family members be tested for this condition?,Are there any medications or anesthetics I should avoid because of my condition?,Are there any clinical trials or new treatments being studied that I might be eligible for?
Common questions about Autosomal dominant mitochondrial myopathy with exercise intolerance
What is Autosomal dominant mitochondrial myopathy with exercise intolerance?
Autosomal dominant mitochondrial myopathy with exercise intolerance is a rare genetic muscle disorder that affects how your muscles produce energy. Mitochondria are tiny structures inside your cells that act like power plants, converting food into the energy your muscles need to work. In this condition, a genetic change (mutation) disrupts the normal function of mitochondria in muscle cells, making it harder for muscles to keep up during physical activity. The hallmark symptom is exercise intolerance, meaning that even mild to moderate physical activity can cause unusual fatigue, muscle pain,
How is Autosomal dominant mitochondrial myopathy with exercise intolerance inherited?
Autosomal dominant mitochondrial myopathy with exercise intolerance follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.