World Duchenne Awareness Day

World Duchenne Awareness Day Duchenne muscular dystrophy Duchenne Muscular Dystrophy (DMD) is a rare progressive disorder. People with DMD are missing muscle-protecting protein. This is due to a fault in the gene producing dystrophin. Muscles to 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.

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