Duchenne – one of the most common fatal genetic disorders diagnosed in children
It is caused by a fault in the dystrophin gene – a protein that is necessary for muscle strength and function. Without this gene, every single skeletal muscle deteriorates as muscle fibres break down and replaced by fibrous fatty tissue.
- A relentless muscle wasting disease
- Every single skeletal muscle is affected
- Mainly affects boys rarely girls
- 100% fatality rate – most will not live beyond their twenties
- It affects 1 in every 3,500 live male births, around 100 cases in the UK per year
- 2 boys die of Duchenne each week – one of the world’s biggest genetic killers
- Because dystrophin is absent, the muscle cells are easily damaged
- Progressive muscle weakness leads to serious medical problems
- Degeneration of the lungs means boys with Duchenne need a ventilator to breathe
- Muscles of the heart degenerate by late teens meaning the condition is severe enough to affect life expectancy
- No long-term effective treatment without major side effects e.g. steriods
- No cure… yet!
- No common standards of care
- Lack of awareness, research and funding
- Huge costs and time of transfer from clinical research to production of treatment
By supporting Alex’s Wish you are helping to fund the science to help bring about a CURE or treatments to delay symptoms.
Click here to view a video on You Tube that explains what this disease does to young boys – it’s heart breaking.