INTRODUCTION:
Duchenne Muscular Dystrophy is an X-linked inherited disorder and the
most common fatal muscle disease in pediatric patients, affecting one of
3,000 - 6,000 male births. It is caused by a mutated encoding gene that
produces a dysfunctional dystrophin protein, resulting in progressive
degeneration of cardiac and striated muscles. DMD diagnosis is sustained
by family history, typical clinical presentation, and altered laboratory
findings, such as elevated transaminases and creatine kinase, however,
is only confirmed through the absence of dystrophin in
immunohistochemical tests of muscle biopsy or in genetic tests by
detecting mutations in the DMD gene 1,2. The
first symptoms usually manifest at an early age, with weakness of lower
limbs and shoulders, psychomotor developmental delay, calf hypertrophy,
and, later, with signs of cardiac and ventilatory muscle impairment