Duchenne muscular dystrophy (DMD) is one of the most common pediatric genetic rare diseases. This 7 September is the first ever World Duchenne Awareness Day celebrated as a United Nations Day. Duchenne muscular dystrophy is a life-changing diagnosis, with few treatment options and no cure.
Duchenne Muscular Dystrophy is a rare progressive disorder. People with DMD are missing 
muscle-protecting protein, due to a fault in the gene producing dystrophin. Muscles become weaker over time until it affects the whole body. It is caused by a mutation on the X-chromosome. That is why mainly males are affected.
First walking becomes difficult, then other motor functions follow and ultimately it affects the ability to breathe as well as the function of the heart, as the heart is a muscle too. The missing protein also has a function in the brain, so learning- and behavior issues can also be part of the disease.
In most countries, the average age of diagnosis of DMD is above 4 years of age and the diagnostic delay around 2.5 years. Parents see symptoms much earlier and some symptoms are already visible when the children are very young.
Duchenne Muscular Dystrophy is named after Dr Duchenne de Boulogne, who was one of the first to report the disease in detail in the 1860’s. Duchenne Awarness Day is held on the 7th September each year to honour the 79 exons on the dystrophin gene. An error on any one of these exons causes Duchenne muscular dystrophy.
World Duchenne Awareness Day
This year’s World Duchenne Awareness Day theme emphasizes the importance of amplifying voices to advocate for the rights, inclusion and well-being of people living with Duchenne muscular dystrophy (DMD) and other dystrophinopathies.
Recognizing that Duchenne muscular dystrophy is one of the most common pediatric genetic rare diseases, the General Assembly decided to designate 7 September, the current World Duchenne Awareness Day, as a United Nations Day, to be observed every year beginning this year.
Did you know?
- One in 3500 to 5000 newborn boys in the world is affected by Duchenne Muscular Dystrophy.
- With the current standards of care, people with Duchenne can live into their early 30s.
- Currently, there is no cure available.
