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.)
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.
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.
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).
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 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.
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.