Duchenne Muscular Dystrophy (DMD) is a progressive and life limiting muscle wasting condition affecting every muscle in the body. Its prevalence is 1 in every 3,500 male births, though it is possible for girls to have it too.
Children with Duchenne are born essentially healthy. However, their genetic makeup has a serious flaw meaning that they are unable to produce an essential protein, Dystrophin, needed to repair damaged muscle. Without Dystrophin the muscles simply waste away and are replaced with fat and scar tissue often giving the impression that the kids have huge calf muscles. By the time they are 5 year old children with DMD will already have lost around 30% of their muscles.
While all children with DMD will progress at different rates, the prognosis is the same for all. Early symptoms include:
- Late to walk and/ or talk
- Difficulty getting up from the floor
- Difficulty climbing
- An inability to jump, hop skip or pedal a bike
- Difficulty using stairs
- A waddling gait
- Much slower than their peers
The progressive nature of the condition means that children will:
- Usually be wheelchair bound before they leave primary school
- Will lose upper body strength
- Will become unable to use their arms
- Will be dependent on ventilation as the respiratory muscles begin to fail
- Be at high risk of cardiac failure
While overall life expectancy for a child with DMD is 25-30, the Northern Ireland life expectancy is only 19 years old. This is entirely indicative of the poor care standards in Northern Ireland compared with the rest of the UK and beyond.
There are no treatments and no cures for DMD but we are close to having treatments for at least some DMD patients that may help to improve quality and length of life.
(Stay tuned to Leap for Luke as we will soon begin to post links to the most promising research trials)