About DMD

What is DMD

• Duchenne Muscular Dystrophy (DMD) is a progressive & fatal muscle-wasting disease.
• It occurs in 1 in every 3500 male births.
• 100 children a year are born in the UK with DMD.
• 2 Children per week die in the UK from DMD.
• It is the biggest genetic killer in the UK.
• It is caused by a lack of dystrophin in the muscle, which would otherwise hold the muscles together.
• By age 11 most boys are confined to a wheelchair.
• Degeneration of the lungs means DMD boys need a ventilator to breathe.
• The muscles of the heart degenerate by late teens meaning the condition is severe enough to affect life expectancy.
• Average life expectancy, even for boys treated for DMD is mid/late 20s.
• Likely behavioural characteristics: limited social skills, attentional deficits and depression.
• There is no cure at present.

How is DMD caused?

Our bodies are created based on essential genetic instructions from our DNA which is the genetic basis for nearly all life on the planet.

Duchenne and and the milder form Becker Muscular Dystrophy are caused by faults in the gene found on the X chromosome.  These faults are called genetic mutations

The dystrophin gene is responsible for producing a protein called dystrophin in muscle cells that appears to act as an anchor to help to keep the cells walls intact. Due to its large size it is particularly prone to mutations. It is the break up and death of muscle cells through a lack of or poor functional dystrophin that causes the severe muscle wasting in DMD.

Issues facing DMD

• No Long-term effective treatment
• No cure
• No common standards of care
• Lack of awareness
• Lack of research
• Lack of funding
• Enormous costs of transfer from clinical research to production of treatment (i.e. need industry buy-in, not just medical institutional interest.