Emery-Dreifuss muscular dystrophy is, like other muscular dystrophies, a wasting disease of muscles that usually starts in childhood or adolescence. The main features include:

  • early development of muscle contractures (tightness)
  • distribution of muscle weakness
  • heart problems


Emery-Dreifuss muscular dystrophy results in the tightening and shortening of certain muscles meaning that it's increasingly difficult to move some joints. Contractures like these are common at a later stage in most muscle wasting diseases but in this disease the contractures develop early or before there is marked muscle weakness.

The condition usually affects the shoulders and upper arms, which makes it difficult to lift heavy objects. The muscles in the lower leg are affected before those of the thighs and hips and so people with Emery-Dreifuss often trip over.

The heart's electric wiring controls the rate at which the heart beats. Emery-Dreifuss affects this electric wiring causing a condition referred to as 'heart block'. The heart may beat abnormally slowly and a person with Emery-Dreifuss may also experience palpitations, giddiness and fainting.

There are two forms of Emery-Dreifuss – EMD 1 and EMD 2. EMD 1 is inherited in an X-linked pattern while EMD 2 is inherited in either an autosomal dominant or an autosomal recessive pattern. Emery-Dreifuss progresses very slowly (apart from the very rare recessive form) and a wheelchair may only be needed later in life.

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