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Receiving a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) can feel overwhelming, whether it’s for you or your child. You may have many questions about what comes next — how the condition progresses, what treatments are available, and how to navigate daily life. Understanding EDMD is the first step toward managing it with confidence and finding the right support.
EDMD is a rare, inherited form of muscular dystrophy that affects both skeletal muscles (which control movement) and cardiac muscle (which keeps the heart beating regularly). It’s caused by a mutation (change) in specific genes that help maintain the structure and function of muscle cells. People with EDMD often experience muscle weakness that worsens over time, contractures (joint stiffness), and heart problems.
While there currently isn’t a cure for EDMD, healthcare providers focus on managing your symptoms, maintaining mobility, and monitoring heart health. With the right treatment plan, many people with EDMD can improve their quality of life.
This article will cover the causes, symptoms, and treatments of EDMD. We’ll also discuss how this genetic disorder affects your prognosis (outlook). To learn more, talk to your healthcare provider or neuromuscular specialist, such as a neurologist (a doctor who treats nerve and muscle disorders).
EDMD is an inherited type of muscular dystrophy that affects both skeletal and heart muscles. This disorder is named after Drs. Alan Emery and Fritz Dreifuss, who first described it in the 1960s.
Doctors and researchers don’t know exactly how many people are living with EDMD. They estimate one form — called X-linked EDMD — affects around 1 in every 100,000 people. EDMD is considered the third most common type of muscular dystrophy. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are generally considered more common. Overall, muscular dystrophy affects roughly 250,000 Americans.
Even though EDMD is rare, early diagnosis is critical because the condition often leads to serious, life-threatening heart complications.
EDMD typically begins in childhood, with most people experiencing symptoms by age 10. However, the condition progresses at different rates in different people. In many cases, cardiomyopathy (a disease that weakens the heart muscle) does not appear until the second or third decade of life and tends to worsen over time.
Some people don’t develop EDMD symptoms until adulthood, and adults with EDMD usually experience slowly progressive muscle weakness. The severity of the disease and the specific symptoms vary depending on the genetic mutation involved and other individual factors.
Emery-Dreifuss muscular dystrophy is a genetic disorder, meaning it’s caused by mutations in specific genes. The particular gene mutation a person has affects their symptoms and determines how the condition may be passed to future generations.
Most people with EDMD have mutations in the EMD or FHL1 genes. The EMD gene provides instructions for making emerin, a protein essential for maintaining muscle structure and function, particularly in skeletal and cardiac muscles. The FHL1 gene produces proteins that help muscles contract (tighten) and move.
EDMD is often classified as an X-linked disorder, meaning the affected genes are located on the X chromosome. Males typically have one X and one Y chromosome, according to MedlinePlus. Those who inherit a faulty EMD or FHL1 gene from their mother develop EDMD, since they lack a second X chromosome to compensate.
Females typically have two X chromosomes, per MedlinePlus. Those with one faulty gene usually inherit a healthy gene from the other parent, making them carriers. Carriers do not typically experience severe muscle weakness or muscle wasting, but they have an increased risk of developing mild muscle weakness and heart problems. They can also pass the condition to their children.
Another gene known to cause EDMD is LMNA. This gene provides instructions for making lamin A and lamin C. These filament proteins help maintain the structure and stability of cells, including skeletal and heart muscle cells. Researchers are still learning about how lamin proteins contribute to EDMD.
Most LMNA gene changes are inherited in an autosomal dominant pattern, meaning only one faulty copy of the gene is needed to develop EDMD. In rare cases, EDMD follows an autosomal recessive pattern. This means a person inherits two faulty copies of the LMNA gene (one from each parent), causing them to develop the disease.
The three most common symptoms of EDMD are muscle weakness, contractures, and heart problems. The type and severity of your symptoms depend on your exact case.
Muscle weakness in EDMD is progressive, meaning it continues getting worse over time. Although severity is unpredictable, it can lead to significant mobility challenges, including loss of ambulation (independent walking). Muscle atrophy (shrinkage or loss of muscle tissue) is also common.
Early muscle weakness usually affects the upper arms and lower legs, often beginning in childhood or adolescence.
Wasted and weak muscles make it harder to walk. Children with EDMD may have an abnormal, waddling gait (side-to-side walking pattern). They may also walk on their toes. Weakness in the arms can make it difficult to raise their arms above their head.
As EDMD progresses, movement typically becomes more difficult. Muscle weakness in the legs makes it harder to climb stairs. Problems with the forearms, shoulders, and neck can also occur. Scoliosis (an abnormal curvature in the spine) can affect people with EDMD.
In some cases of autosomal dominant EDMD, muscle weakness becomes severe enough that assistive devices, such as canes, walkers, or wheelchairs, may be necessary. The National Organization for Rare Disorders (NORD) notes severe walking problems are rare in people with X-linked EDMD.
Contractures occur when joint tissues thicken and shorten, leading to stiffness and restricted movement. These can make it painful and difficult to move certain joints, particularly in the:
In X-linked EDMD, contractures often appear in childhood years. They become more obvious during growth spurts.
In contrast, contractures in autosomal dominant EDMD tend to develop after muscle weakness begins. Neck contractures can restrict movement and, in severe cases, cause dysphagia (difficulty swallowing), making eating more challenging.
People with EDMD are at a high risk for serious heart problems — including cardiomyopathy, a condition that weakens the heart muscle and affects its ability to pump blood. Heart problems tend to appear in people in their 20s but can also occur earlier in life.
Symptoms of cardiomyopathy associated with EDMD include:
The heart uses electrical signals to keep a normal rhythm with a steady beat. EDMD can disrupt these signals, leading to arrhythmias (abnormal heart rhythms) and heart block, which interfere with normal heart function.
Signs of arrhythmias and heart block in EDMD include:
Untreated arrhythmias can be serious and may increase the risk of heart complications, such as heart failure, so regular monitoring is essential.
Diagnosing Emery-Dreifuss muscular dystrophy (EDMD) typically involves a combination of clinical evaluation and specialized tests to confirm the condition and identify the underlying genetic mutation.
Key diagnostic tests for EDMD include:
There’s no cure for Emery-Dreifuss muscular dystrophy, but symptom management can improve quality of life. Treatment focuses on maintaining mobility, reducing joint stiffness, and managing heart complications.
Physical therapy can help improve your range of motion and muscle strength and slow the development of contractures.
Your doctor may recommend surgery to release contractures, though recurrence (return of the symptom) is possible.
Assistive devices such as braces, canes, walkers, or wheelchairs can support mobility and reduce strain on weakened muscles.
Heart complications from EDMD can be life-threatening, so regular cardiology checkups are essential. Your cardiologist (heart doctor) may recommend:
Because Emery-Dreifuss muscular dystrophy can cause serious heart complications, it can lead to a shortened life expectancy without proper management. However, with early diagnosis, regular heart monitoring, and appropriate treatment, many people with EDMD live to middle age or beyond.
If you have a family history of EDMD or have been recently diagnosed, you may want to speak with a genetic counselor. They can help you obtain genetic testing and understand the chances of passing EDMD down to your children. Genetic counseling can also help you prepare for treatments and improve your outlook.
On myMDteam — the social network for people living with muscular dystrophy and their loved ones — members share their experiences, ask questions, and find support from others who understand the challenges of living with muscular dystrophy.
Are you living with Emery-Dreifuss muscular dystrophy? What symptoms have you experienced? How do you manage your disorder? Share your experiences in the comments below, or start a conversation by posting on your Activities page.
Amina Hazmoune, M.D.
is a neurologist with eight years of experience diagnosing and managing neurological and neuromuscular conditions.
Learn more about her here.
Emily Wagner, M.S.
holds a Master of Science in biomedical sciences with a focus in pharmacology. She is passionate about immunology, cancer biology, and molecular biology.
Learn more about her here.
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