Duchenne muscular dystrophy (Duchenne)

Duchenne is a rare neuromuscular disorder, characterised by progressive muscle damage and weakness. It occurs almost exclusively in males due to its X-linked recessive genetic pattern ¹. In the UK, about 100 boys are born with Duchenne each year, and it affects an estimated 2,500 people in the UK at any one time ². Girls are not typically affected, but they can be carriers of the genetic mutation and can have what is known as a dystrophinopathy.¹

Duchenne is caused by mutations in the dystrophin gene resulting in an absence or non-functional dystrophin, a key structural protein protecting the muscle cells from repeated contraction-induced damage.¹

For individuals with Duchenne, their muscles are under constant siege, vulnerable to damage from everyday activities. A normal healthy muscle can counteract muscle damage thanks to its inner capability to regenerate new muscle cells. However, the muscles of people affected by Duchenne are more susceptible to injury and their muscle regeneration is impaired. The body naturally tries to repair the damage, but continuous muscle fibre damage leads to chronic inflammation, and the muscle fibres are replaced by scarring (fibrous tissue) and fat deposits. Over time, the muscles lose their capability to regenerate and their ability to contract, resulting in loss of muscle mass and weakness. It can be a relentless battle that families and doctors face together. ³