Duchenne Muscular Dystrophy (DMD) is a progressive genetic muscle disorder caused by the absence or dysfunction of the dystrophin protein, located on the X chromosome, typically manifesting in boys between 3 and 5 years of age. This condition leads to increasing weakness and atrophy in the muscles, severely affecting an individual's mobility and overall quality of life.
In DMD, a mutation occurs in the gene that codes for the dystrophin protein, which is vital for the structural integrity of muscle fibers. As a result of this mutation, functional dystrophin cannot be produced or is produced deficiently. The absence or dysfunction of dystrophin makes muscle cells vulnerable to damage, leading to their progressive degradation over time and replacement by fat and connective tissue. The progression of the disease often leads to life-threatening complications such as heart failure or respiratory failure, typically before the age of 30.