Duchenne muscular dystrophy (DMD) is a rare genetic disorder that affects 1 in 5,000 male births worldwide.
Around the world, 20,000 children are diagnosed with Duchenne each year. The Canadian Neuromuscular Disease Registry (CNDR) estimates there are more than 800 boys and young men living with Duchenne muscular dystrophy in Canada. While this number appears small, Duchenne is the most common form of muscular dystrophy affecting children. A Duchenne diagnosis is rarely a straightforward path, so there is a broad range in the age of diagnosis. However, most commonly, families find out their child has this disorder between the ages of two and six.
Duchenne is caused by a mutation on the DMD gene found on the X chromosome.
This mutation disrupts the creation of an important protein called dystrophin. Dystrophin is responsible for muscle structure and function. Without it, the muscles become weak and cannot work properly, which leads to the progressive symptoms attributed to Duchenne.
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How does Duchenne affect the body?
Duchenne is defined by muscle weakness affecting the skeletal muscles, lungs and heart. More recent studies have also shown Duchenne can affect the brain, which may result in learning and behavioural challenges. People born with Duchenne require care from multiple medical professionals who specialize in different parts of the body or bodily systems.
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Thanks to advancements in treatments, like corticosteroids, the life expectancy of children and young adults with Duchenne is the longest it has ever been. While there is currently no cure for Duchenne muscular dystrophy, promising research is underway and a variety of different strategies for treating Duchenne are currently being tested.
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