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Genetic and Rare Diseases Information Center (GARD)

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Emery-Dreifuss muscular dystrophy

Other Names for this Disease
  • EDMD
  • Humeroperoneal neuromuscular disease, (formerly)
  • Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • Scapuloperoneal syndrome, X-linked (formerly)
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Your Question

My friend has Emery-Dreifuss muscular dystrophy. I've been trying to learn as much as I can so that I can try to help him cope. I hope you can answer my questions. I know it said that 1 in 100,000 people have this disease but how many people in America are actually living with it? Is it a disease that he could pass on to his children? Can he live a normal life? I know that it is a disease that makes his muscles weak, but how fast does this happen?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Emery-Dreifuss muscular dystrophy?

Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with  Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion.[1]

Last updated: 8/16/2013

How many Americans have Emery-Dreifuss muscular dystrophy?

Currently there is no offical method for tracking cases of Emery-Dreifuss muscular dystrophy. The actual number of individuals diagnosed with this dystrophy in the United States is not known. Given the current US population and the prevalence estimate for Emery-Dreifuss muscular dystrophy of 1 in 100,000,[1] a very rough estimate for number of affected Americans would be around 3,000 individuals.
Last updated: 8/16/2013

If a person has Emery-Dreifuss muscular dystrophy, are their children at risk for inheriting it?

Risks to children of an individual with Emery-Dreifuss muscular dystrophy will vary depending on if he or she has the X-linked, autosomal dominant, or autosomal recessive form. The X-linked form is the most common type. Below we have provided general information regarding the X-linked form and risks to children. For his specific risks, we strongly recommend that your friend speak with a genetic professional. 

In X-linked Emery-Dreifuss muscular dystrophy an affected father cannot pass the condition to his sons, but all of his daughter's will be carriers for the condition (and therefore future grandson's will be at an increased risk). Female carriers of X-linked Emery-Dreifuss muscular dystrophy usually do not experience muscle weakness and wasting, but may develop heart problems associated with this disorder.[1]

You can read further details regarding X-linked, autosomal dominant, and autosomal recessive inheritance by clicking on the links below.
Autosomal dominant-
Autosomal recessive-
Last updated: 8/16/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014

Can a person with Emery-Dreifuss muscular dystrophy live a normal life?

An adult with Emery-Dreifuss muscular dystrophy has written a short biography which is provided on the Muscular Dystrophy Association Web site which you may find helpful in addressing this question. In it he says, "...I’m telling you about myself so you’ll see that people with EDMD can have fulfilling, happy lives. It isn’t easy to live with muscles that grow weaker over time, but you don’t have to let MD [muscular dystrophy] keep you from pursuing an education, career, family, travel — anything you want..." You can view the full biography by clicking here.

Currently, there is not a cure for Emery-Dreifuss muscular dystrophy or treatments that can significantly slow or stop the progression of the disease. However symptom severity can vary, even between affected members of the same family. Your friend's doctors are best equipped to provide him with information regarding his symptoms and how his condition may affect him overtime.
Last updated: 8/16/2013

What is the typical long-term outlook for people with Emery-Dreifuss muscular dystrophy?

Age of onset and severity (rate of progression) of muscle weakness and wasting can vary significantly between people with this dystrophy. Muscle weakness typically begins in the upper arms and lower legs, followed by the shoulders and hips. The progression of muscle weakness is usually slow in childhood and young adulthood. Muscle symptoms may begin to progress more rapidly in adulthood (for some begining in their 30's). Despite progression, most people with Emery-Dreifuss muscular dystrophy never lose their ability to walk.[2]

Heart problems is of significant concern for people with Emery-Dreifuss muscular dystrophy.  These problems often arise around the second decade of life (age 10 to 19). Complications from the heart problems can become life-threatening, however treatments are avaiable to help control these symptoms and reduce this risk.[2]
Last updated: 8/16/2013