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What is Emery-Dreifuss Muscular Dystrophy?

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  • Written By: J.L. Drede
  • Edited By: Melissa Wiley
  • Last Modified Date: 28 June 2018
  • Copyright Protected:
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Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that weakens both the limbs and the heart. Those with the condition usually present symptoms by the time they turn 10 years old. Like all forms of muscular dystrophy, the symptoms and effects of the disease worsen over time and can be fatal later in life.

Early symptoms of Emery-Dreifuss muscular dystrophy typically include weakness and wasting of the shoulders and and calf muscles. Other early signs include joint stiffness and muscle contractions. The condition sometimes leads to fainting spells as well, as it affects the heart.

As the condition worsens, it mostly affects the upper arms, and actions like rising out of a chair or carrying heavy objects become very difficult for many. The calve muscles begin to weaken as well, so most people with the condition will require the aid of a wheelchair or walker at some point. The lower arms and upper legs are usually not affected.

One unique aspect of Emery-Dreifuss muscular dystrophy is how it affects the heart. While most forms of muscular dystrophy damage the heart muscle, Emery-Dreifuss muscular dystrophy instead damages the heart's electrical system. With that damaged, the heart will tend to beat either too fast or too slowly. This frequently leads to heat complications like arrhythmia and an irregular heartbeat.

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In most cases of Emery-Dreifuss muscular dystrophy, it is how the disease affects the heart that is the most dangerous. Some studies have shown that the condition has a mortality rate as high as 40 percent, with those deaths coming from sudden cardiac arrest. Due to this, most people with this form of muscular dystrophy will have a pacemaker inserted in them by the time they turn 30. A pacemaker can help control a person's heart beat and cut down on the risk of a sudden cardiac arrest.

Aside from a pacemaker, there is little in the way of treatment for Emery-Dreifuss muscular dystrophy. Physical therapy and light exercise may be prescribed in an attempt to limit muscle degeneration, but their effectiveness is limited. Operations on the heel can help make walking easier in some cases.

There are three subtypes of Emery-Dreifuss muscular dystrophy, and all are genetic diseases caused by mutations or other abnormalities in the genes. The most common form of the condition is the X-linked recessive variety, which is caused by a mutation in the X chromosome. The other two types of the disease, autosomal recessive and autosomal dominant, caused by mutations in other chromosomes. Since it is a genetic condition, it can be hereditary.

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