Overview
Leigh syndrome with cardiomyopathy (Orphanet code 70474) is a rare and serious inherited condition that affects the brain, nervous system, and heart. It is a form of Leigh syndrome — sometimes called Leigh disease or subacute necrotizing encephalomyelopathy — where the heart muscle is also weakened or enlarged (cardiomyopathy). Leigh syndrome is caused by problems in the mitochondria, the tiny structures inside cells that produce energy. When mitochondria do not work properly, the brain and heart — which need enormous amounts of energy to function — are hit the hardest. Children with this condition typically develop symptoms in infancy or early childhood. The brain damage caused by the disease leads to problems with movement, muscle tone, breathing, and development. The added heart involvement means the heart may not pump blood efficiently, which can cause additional strain on the body. Symptoms can include developmental delays or regression, muscle weakness, breathing difficulties, poor feeding, and signs of heart failure. There is currently no cure for Leigh syndrome with cardiomyopathy. Treatment focuses on managing symptoms, supporting nutrition, protecting heart function, and improving quality of life. Some vitamin and supplement therapies — such as thiamine, riboflavin, or coenzyme Q10 — may help in specific genetic subtypes. Care typically involves a team of specialists working together to support the child and family.
Also known as:
Key symptoms:
Developmental delays or loss of previously learned skillsMuscle weakness or poor muscle tone (hypotonia)Difficulty breathing or rapid breathingPoor feeding and failure to gain weightEnlarged or weakened heart (cardiomyopathy)Movement problems such as unsteady walking or tremorsEye movement abnormalities or vision problemsSeizuresFatigue and low energyVomiting and irritabilityAbnormal reflexesEpisodes of metabolic crisis, especially during illness
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Leigh syndrome with cardiomyopathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Leigh syndrome with cardiomyopathy at this time.
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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 Leigh syndrome with cardiomyopathy.
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.Which specific gene mutation is causing my child's condition, and what does that mean for treatment options?,How severe is the heart involvement, and what medications or monitoring does my child need for their heart?,Are there any clinical trials or experimental treatments that my child might be eligible for?,What vitamins or supplements might help, and how will we know if they are working?,What should I do if my child gets sick or has a fever — is there an emergency protocol I should follow?,What therapies (physical, occupational, speech) does my child need, and how often?,What support services and patient organizations are available to help our family?
Common questions about Leigh syndrome with cardiomyopathy
What is Leigh syndrome with cardiomyopathy?
Leigh syndrome with cardiomyopathy (Orphanet code 70474) is a rare and serious inherited condition that affects the brain, nervous system, and heart. It is a form of Leigh syndrome — sometimes called Leigh disease or subacute necrotizing encephalomyelopathy — where the heart muscle is also weakened or enlarged (cardiomyopathy). Leigh syndrome is caused by problems in the mitochondria, the tiny structures inside cells that produce energy. When mitochondria do not work properly, the brain and heart — which need enormous amounts of energy to function — are hit the hardest. Children with this con
At what age does Leigh syndrome with cardiomyopathy typically begin?
Typical onset of Leigh syndrome with cardiomyopathy is infantile. Age of onset can vary across affected individuals.
Which specialists treat Leigh syndrome with cardiomyopathy?
1 specialists and care centers treating Leigh syndrome with cardiomyopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.