Duchenne Muscular Dystrophy (DMD) is a progressive and fatal muscle-wasting disease that currently boasts a 100% fatality rate. It almost exclusively affects boys, causing them to be wheelchair bound by their teens and fighting for their lives in their early twenties. One in every 3,500 baby boys are born with DMD worldwide. In the UK, 100 boys a year are born with DMD and 2 boys die each week of the disease, making it one of the World’s biggest genetic killers.
- It is caused by a lack of dystrophin in the muscle, which would otherwise hold the muscles together.
- 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 include, limited social skills, attentional deficits and depression.
- There is no cure at present.
How is Duchenne Muscular Dystrophy 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 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 Duchenne Muscular Dystrophy
- 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.
The Duchenne Research Fund is committed to finding a cure for DMD. For more information about how you can help, just click here.