Duchenne Muscular Dystrophy
What is Duchenne Muscular Dystrophy?
It is one of more than 20 types of muscular dystrophy and one of the most common neuromuscular disorders in children. All the muscular dystrophies are caused by faults in genes (the units of inheritance that parents pass on to their children) and they cause progressive muscle weakness because muscle cells break down and are gradually lost. The Duchenne type affects mainly boys and a problem in this gene is known to result in a defect in a single important protein in muscle fibres called dystrophin. It is named after Dr Duchenne de Boulogne who worked in Paris in the mid-19th century who was one of the first people to study the muscular dystrophies.
How common is it?
About 100 boys with Duchenne Muscular Dystrophy are born in the United Kingdom each year. There are about 1500 known boys with the disorder living in the UK at any one time. Most boys are diagnosed between the ages of one and six and between the ages of eight and ten will require the use of a wheelchair. The progressive muscle weakness can result in respiratory and cardiac illness which are the life threatening complications of this disease.
Is there any treatment?
Unfortunately no cure has yet been discovered, however, intensive research to find a cure is being carried on in many centres around the world, including many centres in the UK funded by The Muscular Dystrophy Campaign. While some treatments can delay the progression of Duchenne Muscular Dystrophy most boys may not live beyond their mid to late teens.
The Christopher McCollum Fund will from time to time raise funds specifically for research into a cure for Duchenne Muscular Dystrophy carried out by The Muscular Dystrophy Campaign.
2012 - We are pleased to say research is progressing well to find a treatment for Duchenne. The Muscular Dystrophy Campaign have set up the Duchenne Research Breakthrough Fund to raise £1.6m to help accelerate finding a treatment in the next few years. The charity is supporting this special fund.