Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare and debilitating neuromuscular disease that affects approximately 1 in every 5,000 newborn boys. The fatal disease is caused by a genetic mutation leading to the absence or defect of dystrophin, a protein necessary for normal muscle function. The absence of dystrophin results in muscle weakness, muscle loss, fibrosis, and inflammation which diminishes mobility, pulmonary function, and cardiac function. Constant myofiber breakdown results in persistent activation of myofibroblasts and aberrant production of extracellular matrix (ECM) proteins, including collagens and fibronectin, leading to extensive fibrosis in skeletal muscles.

 

Patients with DMD are often wheelchair-bound before the age of 12, and their progressive muscle weakness may lead to serious medical problems relating to respiratory and cardiac muscle.

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