MDA leads the search for treatments and therapies for Emery-Dreifuss muscular dystrophy (EDMD). The Association also provides comprehensive supports and expert clinical care for those living with EDMD.
In this section, you’ll find up-to-date information about Emery-Dreifuss muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
As you learn more about EDMD, always remember that you’re not alone. MDA is here for you and your family, standing ready to provide help and hope. There is a place for you in the MDA EDMD community.
MDA provides support by:
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In addition, MDA will keep you informed through e-alerts, educational publications and speakers, seminars, videos and newsletters.
Please know that there’s a role for you in the fight against Emery-Dreifuss muscular dystrophy. The MDA community is strong and dedicated, with opportunities for involvement at all levels, such as:
Please know that there’s an important role for every member of the EDMD community. We urge you to contact your local MDA office  to learn more.
An EDMD diagnosis doesn’t mean an end to your hopes and dreams. Changes, challenges and adaptations lay ahead, but also opportunity, fulfillment, joy and hope for a future free of Emery-Dreifuss muscular dystrophy.
Never forget that MDA is here to help.
Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.
EDMD usually shows itself by age 10 and is characterized by wasting and weakness of the muscles that make up the shoulders and upper arms and the calf muscles of the legs. Another prominent aspect of EDMD is the appearance of contractures (stiff joints) in the elbows, neck and heels very early in the course of the disease.
Finally, and very importantly, a type of heart problem called a conduction block is a common feature of EDMD and requires monitoring. For more, see Signs and Symptoms .
EDMD is caused by mutations in the genes that produce proteins in the membrane surrounding the nucleus of each muscle cell. EDMD can be inherited several different ways, although symptoms are essentially the same for all inheritance patterns. For more, see Causes/Inheritance .
EDMD progresses slowly. Muscle weakness may not become a source of difficulty until later in life, although cardiac problems are usually detectable by age 20. Intellect isn’t affected.
Researchers have identified the genes that, when defective, lead to EDMD, and MDA-supported scientists are building on that knowledge in a variety of ways. Areas of genetic research in EDMD include gene therapy, gene silencing and cell therapy.
At the same time, other MDA-supported scientists are studying ways to preserve muscle despite the presence of a degenerative disease. For more, see Research .
The symptoms of Emery-Dreifuss muscular dystrophy (EDMD) usually become apparent by 10 years of age. Early signs include “toe-walking” because of stiff Achilles’ tendons in the heels, and difficulty bending the elbows. Other early symptoms include weakness and wasting of shoulder, upper arm and calf muscles.
The contractures (joint stiffening) that occur early in EDMD may make arm, neck, heel and spine movements difficult. However, progression of muscle weakness seems to occur very slowly in EDMD and may not become a source of difficulty until later in life.
Fainting due to heart abnormalities also can be an early sign of EDMD. Usually, cardiac problems are detectable by age 20, but they can occur at earlier stages in the disease as well. Some women who are genetic carriers for X-linked EDMD also may be at risk for cardiac problems, and this risk may increase with age. (X-linked EDMD carriers don’t tend to have muscle weakness or contractures.)
Intellect isn’t affected.
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done.
The doctor also wants to determine whether the patient’s weakness results from a problem in the muscles themselves or in the nerves that control them. Problems with muscle-controlling nerves, or motor nerves, originating in the spinal cord and reaching out to all the muscles, can cause weakness that looks like a muscle problem but really isn’t.
Usually, the origin of the weakness can be pinpointed by a physical exam. Occasionally, special tests called nerve conduction studies and electromyography (EMG) are done. In these tests, electricity and very fine pins are used to stimulate and assess the muscles or nerves individually to see where the problem lies. Electromyography is uncomfortable but not usually very painful.
Early in the diagnostic process doctors often order a special blood test called a CK level . CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. When elevated CK levels are found in a blood sample, it usually means muscle is being destroyed by some abnormal process, such as a muscular dystrophy or inflammation. Therefore, a high CK level often suggests that the muscles themselves are the likely cause of the weakness, but it doesn’t tell exactly what the muscle disorder might be.
To determine which disorder is causing CK elevation, a doctor may order a muscle biopsy , the surgical removal of a small sample of muscle from the patient. By examining this sample, doctors can tell a great deal about what’s actually happening inside the muscles. Modern techniques can use the biopsy to distinguish muscular dystrophies from infections, inflammatory disorders and other problems.
Other tests on the biopsy sample can provide information about which muscle proteins are present in the muscle cells, and whether they’re present in the normal amounts and in the right locations. This can tell the doctor and patient what’s wrong with the cells’ proteins and provide likely candidates as to which genes are responsible for the problem. The correlation between missing proteins on the muscle biopsy and genetic flaws isn’t perfect, however. An MDA clinic  physician can help you understand these results.
Genetic (DNA) tests, using a blood sample, can analyze the person’s genes for particular defects that cause EDMD, help predict the likely course of a disease and help families assess the risk of passing on the disease to the next generation. For more on getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century .
Researchers recently have identified the genes that, when defective, lead to the forms of EDMD. We now know that the gene that’s defective in X-linked EDMD makes a small protein called emerin, which normally is located in the membrane that surrounds each cell’s nucleus (the compartment in a cell’s center that contains the chromosomes).
It isn’t yet understood how the loss of emerin from the nuclear membrane in X-linked EDMD leads to the symptoms of muscular dystrophy. Some researchers think this lack of emerin interferes with the reorganization of the nuclear membrane after a cell has divided, leading to weak or dying cells. Along these same lines, the gene that’s been found defective in both the autosomal and recessive forms of EDMD contains the instructions for two closely related proteins called lamin A and lamin C that also are associated with the nuclear membrane of cells.
Again, it isn’t yet known how changes in lamins A and C lead to the symptoms of muscular dystrophy, but some research suggests that the nuclear membrane may become destabilized when the lamin proteins are abnormal. This could lead to muscle breakdown.
Another question that remains to be answered is why the symptoms of EDMD are restricted primarily to the skeletal (voluntary) muscles and heart muscle, given that the emerin and lamin proteins are found in most tissues of the body.
EDMD is most commonly inherited through an X-linked, recessive pattern that primarily affects males, who inherit the disease from their mothers. Another type is autosomal dominant, meaning it can be inherited through either parent. A third, very rare type is autosomal recessive, when a faulty gene is inherited from each parent. All forms have similar symptoms. For more on inheritance patterns in neuromuscular disease, see Facts About Genetics and Neuromuscular Diseases .
|Muscles are made up of bundles of fibers (cells). Groups of proteins along the membrane surrounding each fiber and within the cell help to keep muscle cells working properly. When one of these proteins is absent or inadequate (because a gene fails to make it properly), the result can be a form of muscular dystrophy. Absence of or defects in different proteins are among the causes of different types of muscular dystrophy.
The absence of some protein functions in the cell’s nucleus (emerin, lamin A, lamin C) leads to Emery-Dreifuss muscular dystrophy.
Contractures develop early in Emery-Dreifuss muscular dystrophy (EDMD) and can worsen even if muscle strength doesn’t change. Preventing contractures is difficult, but maintaining range of motion with physical therapy may help to slow their development. Surgical release of contractures is challenging because of their tendency to recur.
This form of heart problem occurs when the rhythm of the heartbeat is disrupted because the electrical impulses don’t communicate properly between the heart’s upper and lower chambers. Conduction block can lead to sudden cardiac arrest. By age 30, almost all those with EDMD will have some form of detectable cardiac involvement.
|A floppy, dilated heart can’t pump effectively.|
Cardiac problems can be life-threatening and may require the insertion of a pacemaker or treatment with medication. Fortunately, the problem is fairly easy to detect with an electrocardiogram. Anyone given a diagnosis of EDMD should be monitored regularly for signs of cardiac conduction block.
In addition to cardiac conduction abnormalities, many people with EDMD ultimately develop dilated cardiomyopathy , an impairment in the heart muscle’s ability to pump blood around the body because it’s thinned out and floppy (dilated).
Medications can help when the heart is impaired in this way.
In 1986, MDA-supported scientists identified the gene that, when defective, causes Duchenne muscular dystrophy . Since then, researchers have forged ahead to isolate and characterize genes involved in almost all the neuromuscular disorders in MDA’s program, including those responsible for Emery-Dreifuss muscular dystrophy (EDMD). These discoveries have enabled scientists to understand variations among different forms of the diseases and have helped doctors to provide more accurate diagnoses.
Now that this essential first step is almost entirely accomplished, MDA is exploring ways to correct muscle problems caused by the different gene defects. Areas of especially active research include:
At the same time, other MDA-supported scientists are studying ways to preserve muscle despite the presence of a degenerative disease. As of 2010, some scientists are concentrating on preserving muscle by interfering with a protein called myostatin, a natural inhibitor of muscle growth. Others are studying the biochemical signals that favor muscle repair, maintenance and regeneration, with the aim of improving those functions.
The emerin protein and the lamin proteins — that when defective or deficient result in EDMD — interact with other proteins and almost certainly affect biochemical or mechanical functions in the cells of the skeletal muscles, heart and perhaps other tissues.
Some MDA-supported researchers are studying these interactions and the various "downstream" effects of genetic mutations that cause EDMD, with an eye to identifying targets for treatment development.
Others are testing medications to treat the specific heart problems associated with EDMD in mouse models of the disease.
A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.
Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic  doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)
For more about clinical trials in general, see Learn About Clinical Studies , and to learn more about trial participation in neuromuscular disease, read the Quest magazine article Being a Co-Adventurer .
For a more refined list of EDMD clinical trials, visit ClinicalTrials.gov , a registry of federally and privately supported clinical trials in the United States and around the world. Select "Search for Clinical Trials," and follow the instructions to narrow down your search results.
When I was about a year old, my parents noticed something odd about the way I walked. After many tests it was determined that I had a neuromuscular disease.
It took us several years to get a definite diagnosis of Emery-Dreifuss muscular dystrophy (EDMD).
If you’ve recently found out you or a loved one has EDMD, you understand what my family went through. Learning that you or your child has a form of MD can be frightening and confusing. My parents wondered why I had this disease; we had no history of it in our family.
But each type of MD is caused by an extremely uncommon genetic defect that people often don’t even know they have. You can be sure your disorder wasn’t caused by anything you or your parents did, and you didn’t catch it from anyone.
My family had to make many adjustments because of my MD. We were lucky. Along with great, caring doctors, we had the Muscular Dystrophy Association to help us. From MDA, my parents got the support and information they needed, as well as help with equipment and other services. I was honored to serve as MDA’s National Goodwill Ambassador in 1987-88.
I’m grateful to my parents for not hiding things from me and for letting me be a part of discussions with doctors from an early age. Understanding my disease helped prepare me to manage my medical care as an adult. Having information about my MD also enabled me to enjoy a typical childhood with school, sports and many friends. In high school, I was in student council and National Honor Society, was a team statistician for basketball and baseball, and had an internship.
I graduated from college with a degree in communications, and I work in e-marketing at Harley-Davidson Motor Co. in Milwaukee. I’m also a member of the MDA National Task Force on Public Awareness .
I use a power wheelchair and noninvasive respiratory assistance. 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 keep you from pursuing an education, career, family, travel — anything you want.
People with disabilities have more opportunities today than ever before to develop and use their abilities. Federal law guarantees us a public education, equal employment opportunity and access to public places. Computers and technology help us to move around, write, work and drive.
As you face the challenges ahead, please be assured that we’re making progress toward better treatments and a cure. And remember, you’re not alone.
MDA National Task Force on Public Awareness