Duchenne muscular dystrophy (DMD) was described by the disease’s namesake in the mid-19th century. Over time, the phenotype, genetics, and pathogenesis of this fatal disorder of muscle degeneration have been well described. An understanding of DMD has become universally taught in medical schools and common knowledge among neurologists, physiatrists, and other physicians. Despite our now long-standing understanding of the disease, the development of new, meaningful treatments for these patients has been disappointing. The standard of care remains corticosteroids; however, this may evolve in the near future, as promising new therapies for DMD focusing on exon skipping have been described. Understanding these new therapies highlights both the exciting future of neuromuscular medicine yet also underscores significant challenges ahead. Moreover, the emergence of these treatments recently spurred the US Food and Drug Administration (FDA) to draft guidance for industry in the realm of developing drugs for treating dystrophinopathies.1
Jacobson RD, Feldman EL. Antisense Oligonucleotides for Duchenne Muscular Dystrophy: Why No Neurologist Should Skip This. JAMA Neurol. 2016;73(3):259–260. doi:10.1001/jamaneurol.2015.4011
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