Duchenne muscular dystrophy is a rare genetic disorder that gradually weakens the body’s muscles. Among the many types of muscular dystrophy, Duchenne is the most common form in children and one of the most severe, affecting one in 3,500 boys. Because the Duchenne gene is found on the X-chromosome, it primarily affects boys and occurs in all races and cultures. It is most often passed from mother to child, but in 35 per cent of cases, Duchenne is caused by a random genetic mutation which means it is not inherited and could affect anyone.
Duchenne is caused by a change or mutation in the gene that encodes instructions for dystrophin. As a result, children with Duchenne do not produce enough dystrophin, an important structural component found in normal muscle cells. Without dystrophin, muscle cells begin to breakdown and are easily damaged.
Duchenne usually becomes apparent between the ages of three and five, when boys may fall frequently and have difficulty keeping up with friends when playing. As the disease progresses, the body’s muscles gradually weaken, reducing mobility and leading to issues with the heart and lungs. Young men with Duchenne have a considerably shorter lifespan and typically live into their 20s and 30s.
What are the symptoms?
Symptoms of Duchenne usually appear in early childhood, as the muscles begin to weaken. Most boys will show signs of difficulty walking between the ages of one and three. They often have enlarged calf muscles, difficulty climbing stairs, jumping and running. The child may walk on their tiptoes or stumble, and may have difficulty getting up from a lying or sitting position.
Most children with Duchenne will use a wheelchair by age 12.
As the disease progresses they continue to lose strength in their upper bodies and eventually lose the ability to move their arms. The disease also affects the heart and lung muscles, so around this time they may also require support through the night. Over time, their respiratory systems continue to decline and constant support is needed.
Hope is on the horizon…
While there is currently no cure for Duchenne, researchers are making great advances in slowing the progression of the disease. A number of promising treatments are in various stages of development, while others are undergoing regulatory review and becoming available in some parts of the world.