Treatment Emery-Dreifuss muscular dystrophy

Unfortunately there is as yet no cure or effective treatment apart from the insertion of a heart pacemaker when this is necessary.

However, having an adequate diet and maintaining good general health are very important as in all muscular dystrophies.

Can I improve muscle strength?

Regular gentle exercise, which is tolerated without causing stress, is beneficial. But hard physical exercise (weight training for example) should be avoided. It is essential to eat a well balanced diet, to include plenty of roughage and to avoid becoming overweight since this will only overburden the already weakened muscles.

Can surgery help?

Division of the heel cords can be useful in helping walking. Other operations can be indicated in individual cases where expert advice from a neurologist and orthopaedic surgeon should be sought. Because the heart may be affected and could complicate an operation, the anaesthetist must be told of the diagnosis before any operation is undertaken.

What can be done if the heart is affected?

If the heart becomes affected, and not every person is affected in this way, the doctor may recommend the insertion of a pacemaker. This small gadget is inserted just below the skin of the chest and prevents further problems arising by ensuring that the heart thereafter beats normally.

What of the future?

This is much more hopeful than in the past. Not only through the use of pacemakers in cases with heart disease, but the genes responsible both the autosomal dominant (codes for lamin A/C) and the X-linked forms of Emery-Dreifuss muscular dystrophy (codes for emerin) have been identified. This information is vital in the search for an effective treatment and also for prenatal diagnosis.