Overview
Congenital muscular dystrophy due to LMNA mutation (also known as LMNA-related congenital muscular dystrophy, or L-CMD) is a rare, severe form of muscular dystrophy caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamin A and lamin C. These proteins play a critical role in maintaining the structural integrity of cell nuclei, particularly in skeletal and cardiac muscle. When lamins A/C are defective, muscle cells become vulnerable to damage, leading to progressive weakness and wasting. The disease typically presents at birth or within the first year of life with significant hypotonia (reduced muscle tone), severe muscle weakness predominantly affecting the proximal limbs and axial muscles, and poor head control. Children with L-CMD often never achieve independent ambulation or lose the ability to walk early in life. A hallmark feature is the early development of a rigid spine and progressive joint contractures. Importantly, this condition carries a high risk of cardiac involvement, including dilated cardiomyopathy and cardiac conduction defects (arrhythmias), which can be life-threatening and may require cardiac monitoring and intervention such as pacemaker implantation. Respiratory insufficiency is also common and frequently necessitates ventilatory support. There is currently no cure for LMNA-related congenital muscular dystrophy. Management is supportive and multidisciplinary, involving physical therapy to manage contractures, orthopedic interventions, respiratory support (including non-invasive ventilation), and close cardiac surveillance with appropriate treatment of arrhythmias or heart failure. Nutritional support may also be needed. Early and proactive cardiac monitoring is essential given the risk of sudden cardiac events. Research into targeted therapies, including gene therapy approaches, is ongoing but no disease-modifying treatments are yet available.
Also known as:
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Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy due to LMNA mutation.
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Specialists
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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
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Common questions about Congenital muscular dystrophy due to LMNA mutation
What is Congenital muscular dystrophy due to LMNA mutation?
Congenital muscular dystrophy due to LMNA mutation (also known as LMNA-related congenital muscular dystrophy, or L-CMD) is a rare, severe form of muscular dystrophy caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamin A and lamin C. These proteins play a critical role in maintaining the structural integrity of cell nuclei, particularly in skeletal and cardiac muscle. When lamins A/C are defective, muscle cells become vulnerable to damage, leading to progressive weakness and wasting. The disease typically presents at birth or within the first year of life wit
How is Congenital muscular dystrophy due to LMNA mutation inherited?
Congenital muscular dystrophy due to LMNA mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy due to LMNA mutation typically begin?
Typical onset of Congenital muscular dystrophy due to LMNA mutation is neonatal. Age of onset can vary across affected individuals.