making muscle wasting history

Press Centre

Making Sense of Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a severe and progressive muscle wasting disease. Young boys will face much of their life confined to a wheelchair and without treatment will die in their late teens early twenties.
more......

DMD is sex linked on the x chromosome and so the severe muscle wasting almost exclusively affects young boys. Women are carriers of the faulty gene and a very small number may also develop some symptoms. Some 2 boys are born every week in the UK with this disease and many of these are spontaneous mutations of the gene with no previous family history.

Researchers over the last 20 years have made exciting progress by identifying the gene that causes DMD and working towards possible therapies. Our muscle cells contain a protein called Dystrophin and small changes in the gene that makes the protein in boys with DMD results in no functional Dystrophin and the severe breakdown of the cells.

New gene therapy approaches are being trialled in labs in the UK that might in the future be able to fix or replace the faulty gene and so bring about a treatment or cure for this disease. Drugs such as steroids and other treatments can be used to help to delay the symptoms of the disease but so far no real therapy has been found to halt the long term muscle damage.

PPUK was set up by parents of young people with DMD to find a cure or treatment for this disease.