Introduction to neuromuscular conditions

There are about 60 different types of muscular dystrophy and related neuromuscular conditions. These conditions are characterised by the loss of muscle strength, as progressive muscle wasting or nerve deterioration occurs. They are mainly inherited, can cause shortened life expectancy and there are currently no cures.

"60,000 people in the UK have a neuromuscular condition"

Neuromuscular conditions affect boys, girls, men and women of all ages, occur across all ethnic groups and often more than once in one family. We estimate that there are about 60,000 people in the UK with a neuromuscular condition. When family members and friends are included, over 300,000 are affected by muscle wasting conditions.

The cause of most of the conditions we cover 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.

Julie Clark, in her powered wheelchair looks at us over her shoulder In some types of neuromuscular condition 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 muscular dystrophy 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.

Not all conditions are inherited however. Some conditions are known as being "autoimmune". That means the immune system turns inwards to attack targets within the body rather than fighting off external dangers.

Picture of a classroom and pupils from "Inclusive Education" guidelines And there can be a new mutation (or change) in the genes that causes types of neuromuscular conditions 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.