Ruperttrumpet

Muscular dystrophy and neuromuscular conditions


Muscular dystrophy is the name given to a large number of medical conditions. There are also many neuromuscular conditions which, while not called md, are similar to it. What all these have in common is a progressive weakening and wasting of muscles.

Who, where and when?

Muscular dystrophy and other neuromuscular disorders are not catching, but anyone can get them. They are usually inherited from a parent or parents through their genes, but sometimes appear out of the blue. They affect babies, children, young people and adults of any race. About one in every 2,000 people in the UK will have an nmd, but the effects are much wider than that. Relatives may be carrying the faulty genes while not showing any symptoms.

Causes and cures

The main cause is genetic. That is why so much research has already gone into finding which genes are at fault and how they might be repaired. The genetic risks vary. In some types of nmd both the father and mother must have a faulty gene to pass it on. This is called recessive inheritance. In other types, it only needs one parent to pass on a faulty gene. This is called dominant inheritance. In Duchenne md the mother usually passes the faulty gene on to her son. This is called x-linked inheritance. Progress in research means that once one member of a family is diagnosed it may be possible to test other relatives to detect carriers, or to carry out a "family study".

Not all conditions are inherited however. Some conditions are autoimmune. That means the immune system turns inwards to attack targets within the body rather than fighting off external dangers. And there can be a new mutation (or change) in the genes that causes types of nmd to appear for no apparent reason.

There is, as yet, no cure, but there are ways of treating the symptoms of some conditions (like myotonia congenita) and there is much that can be done practically to improve life for those affected.

Diagnosis

Some nmds are life-threatening. Others may be very disabling or merely cause a mild disability.

Symptoms do not always appear straight away. Muscular dystrophy is mainly progressive. The signs may become more obvious over time. Some symptoms will not show until adulthood. Progress in genetic counselling and diagnosis however is making it much easier to predict which family members may develop the condition over time.

Muscles and what else?

The main characteristic of md is a progressive weakening of muscles. Other parts of the body can also be affected however. Cataracts (a clouding in the eye's lens) are common in myotonic dystrophy for example. The heart can be affected in several types of md, whether the individual has the condition or is a carrier. Linked symptoms like this provide another reason for ensuring accurate diagnosis by specialists.

Help available

There are Muscular Dystrophy organisations wordwide that can provide practical help for individuals and families with neuromuscular disorders, through their hospital-based muscle centres, their expert advice on equipment and adaptations, and their information service. The charities can often also provide grants towards essential equipment like outdoor electric wheelchairs and special beds..

Reproduced from the pages of MDA USA


"TOP"