Muscular dystrophy breakthrough

CMD affects one in 10,000 babies each year

Scientists battling to understand the cause of a muscle wasting disease have made a vital discovery.

In the past it was thought that Congenital Muscular Dystrophy (CMD), which affects one in 10,000 babies each year in the UK, was a single disease.

Our research has taken us a huge step forward in the understanding of CMD

Professor Francesco Muntoni

But scientists at the Dubowitz Neuromuscular Centre at the Hammersmith Hospital and Imperial College have now found that the disease is made up of many different genetic types.

They have already isolated three genes known to be responsible for subtypes of CMD and believe there are more still to be identified.

One of the genes that has been identified, when mutated, gives rise to a very distinctive form of CMD.

Although this form is relatively uncommon, the way the muscles are weakened by the defective gene is also relevant to several other kinds of CMD.

'Enormous advantages'

Professor Francesco Muntoni, consultant paediatric neurologist at the Hammersmith Hospital, said: "Our research has taken us a huge step forward in the understanding of CMD.

"The new disease classifications and our new NSCAG status will dramatically improve our ability to treat different patients appropriately, offering enormous advantages to sufferers across the UK.

"We now hope to continue our exciting work in identifying the different diseases, helping us to complete the 'picture' of CMD.

"We look forward to working with other centres around the UK to help these babies and children."

The discovery of the many sub-types of CMD will now enable doctors to better manage the disease and will also allow genetic counselling.

On the back of this discovery, the Hammersmith Hospital has been granted National Specialist Commissioning Advisory Group (NSCAG) by the government.

The team will now be able to work with other centres around the UK and provide the best possible diagnosis and treatment to CMD patients.

Sarah Yates, director of scientific affairs at the Muscular Dystrophy Campaign, said: "To establish how different forms of CMD might be linked to each other, or to other forms of muscular dystrophy, we must identify and understand the variety of complex processes which underlie each of the disorders.

"Correct management and the development of new treatments depends on this, and the latest discovery is a crucial step forward."