About Duchenne

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.

muscle image

 

 

 

 

About Duchenne:

  • 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

Issues:

  • 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.