Advances in translational research in neuromuscular diseases

Abstract

New therapies developed over the past 3 years for previously intractable diseases of skeletal muscle, neuromuscular junctions, peripheral nerves, and motor neurons are now being incorporated into our standard neuromuscular clinical practice. The past 3 years were also marked by important advances in our understanding of the pathogenesis and pathophysiology of inherited and acquired neuromuscular diseases; these advances were acquired by the use of high-throughput nucleotide and protein analytic methods, novel animal models, and human-induced pluripotent stem cell-derived "diseases in a dish." Over the next decade, we can reasonably anticipate that these insights, coupled with advances in our ability to modulate immune mechanisms, to modify the activity of mutant genes, and to perform gene replacement therapies with enhanced viral vector-based and stem cell-based delivery systems, will revolutionize our management of neuromuscular diseases.