Overview
Early-onset myopathy with fatal cardiomyopathy (also known as EOMFC) is an extremely rare inherited muscle disease that affects both the skeletal muscles (the muscles used for movement) and the heart muscle. This condition is caused by changes in the TTN gene, which provides instructions for making a very large protein called titin. Titin plays a critical role in how muscles contract and maintain their structure. When titin does not work properly, both the voluntary muscles and the heart are severely affected. Symptoms typically begin in infancy or early childhood. Affected children develop progressive muscle weakness, often first noticed as difficulty with motor milestones such as sitting, standing, or walking. Over time, the heart muscle becomes weak and enlarged, a condition called dilated cardiomyopathy. The cardiomyopathy in this disease is particularly severe and tends to worsen rapidly, often leading to heart failure. Children may also have breathing difficulties due to weakness of the respiratory muscles. Unfortunately, there is currently no cure for this condition. Treatment is supportive and focuses on managing heart failure with medications, supporting breathing with ventilatory assistance, and providing physical therapy to maintain muscle function as long as possible. Despite these measures, the heart disease in this condition is typically progressive and life-threatening, often leading to fatal outcomes in childhood or early adolescence. Heart transplantation may be considered in some cases, though the presence of skeletal muscle disease complicates this option.
Also known as:
Key symptoms:
Progressive muscle weakness starting in infancy or early childhoodEnlarged and weakened heart (dilated cardiomyopathy)Difficulty reaching motor milestones like sitting or walkingBreathing difficultiesLow muscle tone (floppiness)Fatigue and poor enduranceHeart failure symptoms such as swelling and shortness of breathFeeding difficulties in infancyDelayed growth and developmentReduced ability to move independentlyRespiratory infections due to weak breathing musclesAbnormal heart rhythms
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Early-onset myopathy with fatal cardiomyopathy.
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Specialists
View all specialists →No specialists are currently listed for Early-onset myopathy with fatal cardiomyopathy.
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 Early-onset myopathy with fatal cardiomyopathy.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How severe is my child's heart involvement right now, and how often should it be monitored?,What medications can help manage the heart failure, and what side effects should I watch for?,When should we consider breathing support, and what options are available?,Is heart transplantation a possibility for my child, and what are the risks?,Are there any clinical trials or experimental treatments we should know about?,What kind of physical therapy or rehabilitation is recommended?,Should our other children or family members be tested for this genetic condition?
Common questions about Early-onset myopathy with fatal cardiomyopathy
What is Early-onset myopathy with fatal cardiomyopathy?
Early-onset myopathy with fatal cardiomyopathy (also known as EOMFC) is an extremely rare inherited muscle disease that affects both the skeletal muscles (the muscles used for movement) and the heart muscle. This condition is caused by changes in the TTN gene, which provides instructions for making a very large protein called titin. Titin plays a critical role in how muscles contract and maintain their structure. When titin does not work properly, both the voluntary muscles and the heart are severely affected. Symptoms typically begin in infancy or early childhood. Affected children develop p
How is Early-onset myopathy with fatal cardiomyopathy inherited?
Early-onset myopathy with fatal cardiomyopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Early-onset myopathy with fatal cardiomyopathy typically begin?
Typical onset of Early-onset myopathy with fatal cardiomyopathy is infantile. Age of onset can vary across affected individuals.