People with Emery-Dreifuss MD often begin to develop symptoms during childhood or adolescence.
In the early stages, people with the condition usually develop muscle contractures (where the muscles and tendons become shortened and tightened, limiting the range of movement at nearby joints).
Areas commonly affected by muscle contractures include the arms, neck and feet. This means that people with Emery-Dreifuss MD may have difficulty straightening their elbows or bending their neck forward, for example.
Like all types of MD, Emery-Dreifuss MD also causes progressive muscle weakness, usually beginning in the shoulders, upper arms and lower legs. This can make it difficult to lift heavy objects or raise your arms above your head, and you may have an increased tendency to trip over things.
Later on, the hip and thigh muscles become weaker, making activities such as walking up stairs difficult. People with Emery-Dreifuss MD will often eventually require a wheelchair, as they become unable to walk.
Emery-Dreifuss MD can also affect the heart's electrical signals, causing heart block. This can result in people with the condition developing an abnormally slow heartbeat and palpitations, which can lead to episodes of lightheadedness or fainting. The slow heartbeat can often be treated successfully with an implanted pacemaker.
Due to the risk of serious heart and respiratory problems, someone with Emery-Dreifuss MD will often have a shortened life expectancy. However, most people with the condition live until at least middle age.