Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited disorder, characterized by slow progressive muscle wasting and weakness, which usually begins in childhood or adolescence. The condition affects the muscles of the face, neck, arms, spine, heart and legs, beginning from the upper arms and lower legs and progressing to the shoulders and hips.

EDMD is considered less severe than the other forms of muscular dystrophy. The features that make it different from other muscular dystrophies are the early development of muscle tightness (contractures) and its effect on the muscles that control heart rate and rhythm which can lead to bradycardia (slow heartbeat), fainting, stroke and even sudden death. Contractures restrict the movement of certain joints and most often involve the elbows, ankles and neck.

The condition can be diagnosed with blood tests, electromyography (EMG), genetic analysis and muscle biopsy. There is no cure for EDMD and supportive care is essential for prolonging life expectancy. The primary concern is to prevent sudden cardiac death, by placing a pacemaker to stabilize the heart rhythm. Muscle strength can be improved with a healthy diet, maintaining good general health and regular gentle exercises. Your doctor may recommend passive bracing, which will allow you to remain independent for as long as possible. To correct or prevent contractures and to increase range of motion, surgery (e.g., tendon release) may be necessary.