Areas of Focus

Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a rare neuromuscular disorder, characterized by progressive muscle damage and weakness. It occurs almost exclusively in males due to its X-linked recessive genetic pattern. Duchenne is a condition that knows no borders with an estimated incidence of 1 in 5,000 male newborns worldwide. Girls are not typically affected, but they can be carriers of the genetic mutation and can experience some related symptoms.

How does Duchenne affect the body?
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 damage. 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 fiber damage leads to chronic inflammation, and the muscle fibers 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.