ABOUT DUCHENNE MUSCULAR DYSTROPHY
Although affecting 1 in 3600 boys, Duchenne Muscular Dystrophy is classed as a rare disease. Around 100 boys are born with DMD in the UK every year. Worldwide, this is around 54 every single day. In total it affects 300,000 worldwide.
It is a disorder of the Dystrophin gene, the largest protein-coding gene in the entire human genome. There are 79 exons on the Dystrophin gene and just one mutation in any one of these exons is all it takes to cause Duchenne.
Those with Duchenne are unable to produce Dystrophin, a protein essential for the stability and repair of muscle cells. Without it, every muscle in the body will eventually waste away.
It is typically thought of as a disease which only affects males but, although extremely rare (approx 1:50million), females can have Duchenne too. Some carriers can be manifesting, meaning they display some symptoms of Duchenne, varying from mild muscle pain and fatigue to Duchenne of the same severity as seen in males.
Those with Duchenne usually appear healthy at birth, but often struggle to meet developmental milestones. They struggle to run, jump and climb stairs like healthy children, can appear clumsy and fall often. The typical age of diagnosis is around 4-5 years old.
The ability to walk is typically lost between 8-12, with a strong decrease in arm function generally occurring between 10-16. Those with Duchenne are not expected to reach their 30th birthday, while complications can mean some don't even reach their 20th. For some this decline may occur sooner, while in rare cases some children with Duchenne may never walk at all.
Unlike most disorders, Duchenne occurs across ALL races and nationalities.
Not all cases of Duchenne are passed on by carrier females. Official figures state that a third of cases are caused by a new genetic mutation with no previous family history, although some findings suggest it could be closer to 50%. Quite simply, it could happen to any family.
Those with Duchenne often have unusually large calves, this is known as pseudo-hypertrophy. It's caused by dying muscle cells being replaced by fat and scar tissue.
There is currently NO effective treatment for the majority of those with Duchenne,.......... it is 100% FATAL.
WHAT IS THE TREATMENT FOR
There’s currently no cure for Duchenne (DMD), but a variety of treatments can help to manage the condition.
As Duchenne progresses, muscles become weaker which means mobility and strength is gradually lost. These physical problems can be helped with:
Low-impact exercise, such as swimming
Physiotherapy can be useful for maintaining muscle strength, preserving flexibility and preventing stiff joints.
Physical aids, such as a wheelchair, leg braces or crutches, which can help standing and staying mobile.
Occupational therapy can help maximise or improve independence by using different techniques, changing environment and providing any necessary assistive equipment.
Once the chest muscles become too weak to control breathing properly, machines may be needed to assist with breathing and coughing, particularly while sleeping.