This form of muscular dystrophy was so named after Professor Emery in the UK and Professor Dreifuss in the United States, who together first described the disorder nearly 40 years ago.
Like other muscular dystrophies it is a wasting disease of muscle. It usually begins in childhood or adolescence. The features, which make it unique and different from other muscular dystrophies, are the early development of muscle contractures, the distribution of muscle weakness, and the fact that the heart may be affected in a particular way.
This is a tightening and shortening of certain muscle groups so that the joints, which are involved, become increasingly difficult to move. Such contractures are common at a late stage in most muscle wasting diseases and result from inactivity. But in this disease muscle contractures develop very early or before there is any marked muscle weakness.
In this condition they limit elbow straightening so that the arms are often held in a semi-flexed way, they result in a tendency to walk on the toes, and they limit forward bending of the neck.
In the upper limbs weakness affects mainly the shoulders and upper arms. In the lower limbs, unlike most other dystrophies, weakness affects the lower legs first. This distribution of muscle weakness is sometimes referred to as ‘scapulo-humeroperoneal’.
At first there is difficulty in raising the arms above the head and lifting heavy objects, and a tendency to trip over carpets. Later on the hip and thigh muscles also become affected so that climbing stairs becomes increasingly difficult, as does rising from a chair without assistance.
This is affected in a way that is unusual for muscular dystrophy, rather than affecting the heart muscle, it is the electrical wiring (called the cardiac conduction system) that controls the rate at which the heart beats that is mainly involved and is referred to as “heart block”. The heart rate is often abnormally slow, palpitations may occur (which feel like “fluttering” in the chest – this is not uncommon in normal individuals and alone would not be a cause for concern), as well as attacks of giddiness and fainting spells. Increasing tiredness and breathlessness may also occur.
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.
In general the condition is less severe than many other forms of muscular dystrophy and though life expectancy may be shortened, many affected individuals can expect to reach middle age or later. However, it is essential that affected individuals be checked at frequent intervals, say every 12 months, to ensure that the heart is not affected. There is evidence that a more severe recessive form also exists. Here weakness is present and progresses rapidly from early childhood, however this is very rare.
The condition progresses very slowly over the years (except for the very rare recessive form), and it may be that later in life a wheelchair may be required.
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.
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.
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.
The condition is inherited and can therefore affect other members of the family. In many families it is inherited as a sex-linked (X-linked) trait and therefore only affects males and is carried by unaffected females. All the sons of an affected male will be unaffected but all his daughters will be carriers. With regard to the offspring of a woman who is a carrier, on average each of her daughters has a 50:50 chance of also being a carrier, and on average each of her sons has a 50:50 chance of being affected. The condition can also be inherited as an autosomal dominant trait, which affects both males and females. Here the genetic risks are different. As in all autosomal dominant disorders on average each son or daughter of an affected parent has a 50:50: chance of also becoming affected. In the case of the recessive form, both parents are normal but there is a 1 in 4 chance of any future children also being affected.
To make matters even more complicated, sometimes in x-linked and dominant cases there is no family history of the disorder, only one individual in the family being affected. In these cases the disease has arisen as the result of a new mutation in the affected individual but who may then later transmit the disorder to his or her children. For these various reasons it is very important to seek the professional advice of a neuromuscular specialist or medical geneticist if you are at all concerned about the risks to your children and other relatives.
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.
- give you accurate and up-to-date information about your or your child’s muscle-wasting condition, and let you know of progress in research
- give you tips and advice about day-to-day life, written by people who know exactly what it’s like to live with a muscle-wasting condition
- put you in touch with other families living with the same muscle-wasting condition, who can tell you about their experiences
- tell you about – and help you get – the services, equipment and support you’re entitled to.
If you would like your GP or other health professional to have more information about Emery-Dreifuss muscular dystrophy, we have some relevant materials. We’ve developed an online training module for GPs, as well as one for physiotherapists working with adults with muscle-wasting conditions. Contact our helpline or email us to find out more.
This factsheet is under review, due for updating later in 2017. If you have any queries, please contact us. Version: 2, Published: May 2007’, Author: Professor Alan E.H.Emery for Muscular Dystrophy UK
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