Overview
Neuromuscular disease with dilated cardiomyopathy is a rare genetic condition that affects both the skeletal muscles and the heart. People with this disease experience progressive muscle weakness, which can make it harder to walk, climb stairs, or perform everyday tasks. At the same time, the heart muscle becomes stretched and weakened, a condition known as dilated cardiomyopathy. When the heart is dilated, it cannot pump blood as efficiently as it should, which can lead to heart failure symptoms such as shortness of breath, fatigue, and swelling in the legs or feet. This condition typically begins in childhood or adolescence, though the age of onset can vary. The muscle weakness usually affects the limbs and may also involve the muscles used for breathing. The heart problems can develop at the same time as the muscle weakness or may appear later. Because both the muscles and the heart are involved, this disease requires care from multiple specialists. There is currently no cure for this condition. Treatment focuses on managing symptoms and slowing disease progression. Heart medications such as ACE inhibitors, beta-blockers, and diuretics may be used to support heart function. Physical therapy and assistive devices can help maintain mobility. In severe cases of heart failure, a heart transplant may be considered. Regular monitoring of both heart and muscle function is essential for managing this disease effectively.
Key symptoms:
Progressive muscle weakness in the arms and legsEnlarged and weakened heart (dilated cardiomyopathy)Shortness of breathFatigue and low energyDifficulty walking or climbing stairsSwelling in the legs, ankles, or feetIrregular heartbeat or heart palpitationsDifficulty breathing when lying downReduced exercise toleranceMuscle wasting or loss of muscle bulkDifficulty lifting objectsBreathing difficulties due to weak respiratory muscles
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Neuromuscular disease with dilated cardiomyopathy.
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Rare Disease Specialist
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 Neuromuscular disease with dilated cardiomyopathy.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific genetic mutation is causing this condition, and what does it mean for my prognosis?,How often should my heart function be monitored, and what tests will be needed?,What medications are recommended for my heart, and what side effects should I watch for?,Should other family members be tested for this genetic condition?,What physical activities are safe for me, and what should I avoid?,Are there any clinical trials or new treatments being studied for this condition?,When should I seek emergency medical care, and what warning signs should I look for?
Common questions about Neuromuscular disease with dilated cardiomyopathy
What is Neuromuscular disease with dilated cardiomyopathy?
Neuromuscular disease with dilated cardiomyopathy is a rare genetic condition that affects both the skeletal muscles and the heart. People with this disease experience progressive muscle weakness, which can make it harder to walk, climb stairs, or perform everyday tasks. At the same time, the heart muscle becomes stretched and weakened, a condition known as dilated cardiomyopathy. When the heart is dilated, it cannot pump blood as efficiently as it should, which can lead to heart failure symptoms such as shortness of breath, fatigue, and swelling in the legs or feet. This condition typically
Which specialists treat Neuromuscular disease with dilated cardiomyopathy?
2 specialists and care centers treating Neuromuscular disease with dilated cardiomyopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.