Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.
The genes associated with Emery-Dreifuss muscular dystrophy appear to be essential for the normal function of skeletal and cardiac muscle. The EMD and LMNA genes provide instructions for making proteins that are components of the nuclear envelope, which surrounds the nucleus in cells. 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. The protein produced from the FHL1 gene appears to be involved in other muscle cell functions, including chemical signaling, maintaining the structure of these cells, and influencing muscle growth and size.
Mutations in the EMD, FHL1, and LMNA genes that cause Emery-Dreifuss muscular dystrophy prevent the production of their respective proteins or lead to abnormal or nonfunctional versions of these proteins. Researchers speculate that changes in EMD or LMNA could weaken the structure of the nuclear envelope in cells that undergo a lot of mechanical stress, such as skeletal and cardiac muscle cells, making these cells more fragile. FHL1 gene mutations also alter the structure and function of muscle cells, although little is known about the mechanism. Researchers continue to investigate how genetic changes can lead to the joint contractures, muscle weakness, and heart abnormalities characteristic of Emery-Dreifuss muscular dystrophy.
Changes in several other genes result in conditions that resemble Emery-Dreifuss muscular dystrophy, but with more variable features. Some researchers consider these to be types of Emery-Dreifuss muscular dystrophy, while others believe that they represent similar, but separate, disorders.
In more than half of all cases of Emery-Dreifuss muscular dystrophy, the genetic cause of the condition is unknown. Researchers believe that mutations in additional genes, which have not been identified, can also cause this condition.
","key":"forms","title":"What causes Emery-Dreifuss muscular dystrophy?"},{"bodyHtml":"Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.
Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The types usually have similar signs and symptoms, although a small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"emery-dreifuss-muscular-dystrophy","sourceDocuments":[{"name":"Emery-Dreifuss muscular dystrophy","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:10.188877+00:00","label":"Causes","pageSha256":"697d10ef57334d9328d3a6fae9f75860cb4beb73a4f375408f917b8c45351c12","sourceUrl":"https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/emery-dreifuss-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":"Emery-Dreifuss muscular dystrophy"},"schemaVersion":1}