pediatrics
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Key Points
Duchenne dystrophy and Becker dystrophy are X-linked recessive disorders that cause a decrease in dystrophin, a protein in muscle cell membranes. Patients have significant, progressive weakness that causes severe disability, including difficulty walking, frequent falls, dilated cardiomyopathy, and early death due to respiratory insufficiency. Active and passive exercise is helpful, along with leg braces and ankle-foot orthoses. In Duchenne dystrophy, dailyprednisoneordeflazacortimproves muscle strength and mass, improves pulmonary function, and helps delay onset of cardiomyopathy, although adverse effects are common. For patients with Duchenne dystrophy with certain mutations,eteplirsen,golodirsen,viltolarsen,casimersen, and ataluren, despite limited evidence of clinical benefit, may be used as well. An angiotensin-converting enzyme inhibitor and/or a beta-blocker may help prevent or slow progression of cardiomyopathy. Ventilatory support (noninvasive and, later on, invasive) can help prolong life. 