Emery-Dreifuss Muscular Dystrophy (EDMD)

Signs and Symptoms

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.