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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>L-CMD is caused by mutations in the LMNA gene. This gene provides instructions for making very similar proteins called lamins. These proteins play an important role in determining the shape of the nucleus within cells. Lamins are an essential supporting (scaffolding) component of the nuclear envelope, which is the membrane that surrounds the nucleus. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.</p><p>Mutations in the LMNA gene lead to the production of abnormal lamins. These malfunctioning proteins alter the structure of the nuclear envelope in ways that are not well understood. Researchers are working to determine how these changes affect muscle cells and lead to muscle weakness and atrophy in people with L-CMD.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes LMNA-related congenital muscular dystrophy?"},{"bodyHtml":"<p>In people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.</p><p>Other features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).</p><p>Over time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"lmna-related-congenital-muscular-dystrophy","sourceDocuments":[{"name":"LMNA-related congenital muscular dystrophy","reviewed":"2018-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:58.368747+00:00","label":"Causes","pageSha256":"b9bbb20cd92394633a1ac1aa3d99beb4605d2535dd9e189a339d9a0fa7ebb2d3","sourceUrl":"https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/lmna-related-congenital-muscular-dystrophy"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"LMNA-related congenital muscular dystrophy"},"schemaVersion":1}