Children S Neuromuscular Disorders

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

Raising a child with a neuromuscular disorder can be a overwhelming experience for even the strongest parent or grandparent. Dr. Charlotte Thompson, a leading authority in pediatric neuromuscular disorders, draws on her 38 years of experience treating children with muscular dystrophy, spinal atrophy, congenital and mitochondrial myopathies, Charcot-Marie-Tooth, and all the childhood neuromuscular disorders. Her book provides not only medical facts but much practical advice on how to cope with the many challenges of day-to-day parenting a child with neuromuscular disease. Dr. Thompson discusses how to cope with the initial diagnosis of a neuromuscular disorder and then suggests ways to get beyond the shock, numbness, and anger that may occur. She describes each of the principal diseases giving the history, signs and symptoms, the usual course, outcome, genetics, and any possible treatments. Subsequent chapters offer advice on when to ask for a second opinion about the diagnosis, how to navigate the medical maze and work with a child's medical team. Tips on finding the most appropriate school placement and developing an individual education program (IEP) are invaluable. Dr. Thompson stresses the importance of taking one day at a time and insists that parents must care for themselves. She offers suggestions for developing family closeness and even how to make time for fun. Wise advice from parents of children with neuromuscular disease is inserted in boxes throughout the chapters. A large appendix gives resources state by state and country by country. There is no training that prepares you to be the parent of a child with a disability, but Raising a Child with a Neuromuscular Disorder should be a great help to parents, grandparents, and anyone who cares for a child or young person.

The newborn child’s immature nervous system makes early diagnosis of some neurological disorders difficult: it is often only the passage of time which clarifies the severity and pattern. Careful analysis of motor skills, vision, hearing and speech allows us to assess milestones. Progress from head control to sitting, standing and the maturation of gait should be orderly. Informed examination and the chapter on gait analysis highlight this development. Chapters in this book describe neural tube defects, the recognition and management of cerebral palsy and, lest we forget, poliomyelitis. The book is completed by considering the muscular dystrophies and arthrogryposis.

This reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories.

This book is the first to provide comprehensive information in one place on the management of neuromuscular disorders (NMDs) in children. Written by experts from the international NMD community, this volume describes the natural history of the most frequent NMDs, such as Duchenne muscular dystrophy spinal muscular atrophy, hereditary neuropathies, congenital and metabolic neuropathies and myasthenic syndromes. Best practice management of key functions typically affected by NMDs, such as, cognition and mental health, respiratory function, gastrointestinal, nutritional and cardiology management is provided. Sexual issues and transition to adulthood are also discussed. The final part of the book provides a critical review of new evidenced-based management approaches to NMDs. The large number of healthcare professionals involved in managing children with NMDs will find this a useful one-stop reference resource

Most neuromuscular diseases (NMD) are rare inherited conditions presenting a relentlessly progressive course. Some NMD are associated with intellectual impairment and many are complicated by musculoskeletal, cardiac, or respiratory problems. Rehabilitation care of NMD is thus best provided by a team of medical specialists and health professionals working closely together in an interdisciplinary fashion. Rehabilitation for patients with NMD should include physical evaluation but also assessment of their ability to manage their daily activities or work and their need for assistive devices. With appropriate physical, psychological, and social support, those patients can maintain a good quality of life and an adequate level of well-being. Surgical management of musculoskeletal problems in children related to neuromuscular disorders remains a highly controversial subject. This review is based mainly on the author's personal experience with conservative and periopeporative rehabilitation care for neuromuscular diseases. A multidisciplinary approach is advocated. The importance of proactive respiratory care is emphasized. Rehabilitation after surgical treatment of spinal deformities is analyzed outlining the particular aspects in spinal muscular atrophy, Duchenne's muscular dystrophy, congenital muscular dystrophy, and congenital myopathies. A disease- specific approach is recommended as the wide variety of different neuromuscular pathologies requires careful planning of treatment strategies best managed in a team approach.

Significant scientific and therapeutic advances have been made in recent decades, particularly in hereditary but also in acquired neuromuscular diseases. As a result of our increasing etiological understanding, the classification of these diseases has changed from a clinical-descriptive and formal-genetic to a molecular-genetic and pathophysiological one. This has led to an intensification of research into the diagnosis and treatment of these diseases, resulting in the first effective gene-modifying treatments for DMD and SMA in recent years and, more recently, gene replacement therapy for the most severe form of SMA. In addition, great strides have been made in symptomatic and rehabilitative treatment, making it possible to improve the functioning and quality of life of those affected and their families. This Special Issue of Children contains a collection of 12 studies and reviews dealing with genetic and acquired peripheral nerve and muscle disorders.