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Neuromuscular Disorders in Children
Neuromuscular disorders are a diverse group of conditions that affect one in 2000 children worldwide. We now know the genetic basis of more than 40 muscular dystrophies, 38 congenital myopathies, 25 congenital myasthenic syndromes, 26 metabolic myopathies, and 75 hereditary motor and sensory neuropathies, to name just a few of the disease categories seen by the child neurologist.
Clinicians now routinely access novel next-generation sequencing techniques, resulting in rapid identification of new syndromes and, in many cases, expansion of our understanding of the molecular basis of known conditions. This improved understanding has led to the development of specific therapies for some diseases. Enzyme replacement therapy, immunosuppression, and cofactor or vitamin supplementation are now reversing or significantly ameliorating potentially devastating neuromuscular disorders of childhood. Gene therapy and other molecular-based therapeutic strategies are now entering our clinics as treatments for spinal muscular atrophy, the dystrophinopathies, and other genetically determined neuromuscular diseases.
The identification of specific syndromes and development of new therapies for pediatric neuromuscular disorders has, in the last decade, been facilitated by expanded collaborations among medical centers throughout the world, as well as collaborations among patient and parent support groups, academia, industry and government. These collaborations by the diverse stake-holders in the US, Europe and other continents have standardized clinical care, advanced outcomes research, improved clinical trial design, and led to the establishment of disease registries. These synergistic initiatives have accelerated the search for effective therapies and harmonized the standard of care across the world in a way that could not have been anticipated when the first edition of our book, Neuromuscular Disorders of Infancy, Childhood, and Adolescence, was published.
The value in these modern advances depends on astute clinicians who are the first to examine the symptomatic child, and who are conversant with all of the diagnostic and therapeutic tools at their disposal. This textbook is written for such physicians and therapists involved in the day-to-day care of children with neuromuscular disorders, who share the ultimate goal of improving their multidisciplinary care and rescuing patients therapeutically from their diseases whenever possible.
Each chapter has been prepared by experts in the area, and we are very grateful to our many colleagues and friends for their generosity in sharing their knowledge and expertise for this textbook. Every first edition chapter in this book has required significant revisions or extensive rewriting, and every new chapter similarly reflects the extent of scientific progress in the last 11 years, often shifting the focus from clinical diagnosis, to molecular mechanisms, to exciting new therapies.
Some of these changes since the first edition have been truly breathtaking: witness just one example, Duchenne muscular dystrophy. Our improved understanding of this disorder has forced us to expand the relevant sections in this book, devoting specific chapters to diagnosis, clinical management, and clinical trials. The current emphasis on clinical trials and novel therapeutics has prompted us to devote a new chapter to translational research into neuromuscular disorders. We hope that these changes in focus are of value in providing a detailed background to a rapidly changing field.
We are pleased to offer you a glimpse at the book with this complimentary introduction chapter called “Historical Perspectives.” Access the free chapter here.
If you found this chapter interesting and would like to access additional chapters, you can do so online via ScienceDirect here. If you prefer to purchase a print or e-copy of the book for your personal collection, visit the Elsevier store here. Enter discount code STC317 at checkout and receive up to 30% off the list price and free global shipping.
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