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Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.
Nine years have elapsed since the second edition of this book was published. In this time the principal advances in neuromuscular diseases have been in the application of molecular genetics to understanding the aetiology and pathogenesis of this group of disorders. As a result many previously unrecognised disorders have been charac terised. Some clinical syndromes, such as the limb girdle dystrophies, have become better defined. In many such instances the new genetic information has led to major advances in knowledge of the biology of cell structures, for example, the membrane structural and channel proteins. The clinical syndromes themselves, and their patho logical and electrophysiological characteristics, however, remain as important as ever, since they constitute the clinical problem itself and, indeed, the database from which all other concepts emerge. Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. However, this informa tion does not necessarily always define clinically useful syndromes. Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally defined as a clinical entity. The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural proteins.
This book offers the interventions that the researchers and clinicians of the UMDNH-NJMS Center for Ventilator Management Alternatives and Pulmonary Rehabilitation have found most effective as well as the interventions offered by other investigators so that the clinician can choose among all available options. It is designed to be a comprehensive guide for the day-to-day management of these conditions.
Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment. Mirroring the first book, this two-volume edition is divided into two parts. Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes. Neuromuscular Disorders in Clinical Practice, Second Edition is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology and electromyography should find this book inclusive, comprehensive, practical and highly clinically focused. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will find the book of great value in their practice.
Although neuromuscular diseases are very common, the majority of medical specialists see far too few patients or are too specialized in their own medical disciplines to know the management options at every stage of neuromuscular disease. Patient and family are usually presented with the single approach advocated by the consulting specialist for a particular problem. This book aims to make therapists and patients alike, aware of the range of varied therapeutic techniques available.
Pulmonary Assessment and Management of Patients with Pediatric Neuromuscular Disease covers the broad medical problems and specific pulmonary conditions in patients with pediatric neuromuscular disease, ranging from the different types of neuromuscular disease, their pathophysiology, and assessment and management, including both novel disease modifying pharmacotherapies and state-of-the-art clinical management. This book provides evidence-based guidance for pediatric patients with neuromuscular disease, and is a valuable resource to pediatric pulmonologists, critical care physicians, and respiratory therapists who want an update and understanding on the cutting-edge therapies and standards of care for managing this population. Provides a single comprehensive source of information to properly guide pulmonary assessments of pediatric neuromuscular disease Discusses recent advancements in both medications and clinical respiratory management for pediatric patients Covers different types of neuromuscular disease, including spinal muscular atrophy, Duchenne muscular dystrophy, congenital muscular dystrophy, and more
Here is a thoughtful new book for professionals who assist persons afflicted with neuromuscular disorders to help them and their families adapt to lifestyle changes accompanying the onset of these disorders. Health care professionals provide strategies to maintain the psychosocial well-being of children and adults with neuromuscular disorders which, in addition to physical damage, also assault the sense of self and challenge the individual’s ability to move and communicate. Chapters describe the psychosocial aspects of a variety of neuromuscular diseases such as Duchenne and myotonic muscular dystrophy, multiple sclerosis, amyotrophic lateral sclerosis, Friedeich’s ataxia, and Charcot-Marie-Tooth disease. The distinctive characteristics of each disease are examined with special attention given to the natural history, treatment, management, and psychosocial issues of the specific disorder. Beyond the clinical and research importance of Muscular Dystrophy and Other Neuromuscular Diseases, it also addresses the anxiety, doubts, and questions felt by patients with chronic progressive disabilities and their families. This helpful guide is unique in the way it features the interaction of professionals in the social services, psychology, religion, and various medical specialties in the care and treatment of these patients. Professionals in all of these disciplines, as well as the patients and families afflicted by these disorders, will benefit from this valuable resource.
This comprehensive book addresses the acute emergencies in neuromuscular disease from a novel perspective, focusing on clinical management and treatment of these disorders rather than the more traditional neuropathology, neurogenetics, and neurophysiology approaches. The book fills the gap in guidelines by providing an evidence-based guidance for the clinical adult or pediatric neurologist confronted by an acutely ill patient in a potentially life-threatening situation. The book is structured according to pathophysiological principles, but each chapter is strictly organised around case vignettes that emphasize clinical relevance allowing the non-specialist to access complex scientific backgrounds. The electronic supplementary material and multimedia are provided as an integral tool to facilitate accessibility and understanding of a notoriously difficult field of neurology. Finally, the role of patients, who are increasingly involved in many management decisions, is highlighted in a chapter on ethical issues discussing withholding or withdrawing life-sustaining therapy, patient end-of-life values, wishes and preferences, and on advanced directives. The publication is aimed equally at the non-specialist neurologist in frontline clinical practice confronted by a rare disorder needing immediate management decisions, at the clinical specialist referring for guidance in specific management aspects, and at the specialist researcher keen to maintain clinic relevance.
This book reviews the electrophysiological, genetic and immunological bases of some of the major neuromuscular diseases and evaluates their importance pertaining to the clinical management of the patients. Included are up-to-date topics such as gene therapy, myoblast transfer and new drug trials. Written by experts in their own fields, this volume will not only be of great value to neurologists and neuroscientists, but also to geneticists, immunologists and physiologists.
In the seven years since the first edition of this book was published there have been many important developments in knowledge of neuromuscular diseases. These are reflected in this new edition. We have taken the opportunity to add much new clinical and scientific material to the book, particularly in relation to metabolic myopathies and neuropathies, and to include more information on genetic aspects of neuromuscular diseases, quantitative electromyo graphic techniques, plexus and root lesions and cardiomyopathies. The aim of the book remains unchanged, but we have rearranged some of the material so that there are several new chapters. The illustrations have also been extensively revised and there are many new references. We hope that it will continue to provide a convenient source of practical and theoretical information that will not only be useful in managing patients with neuromuscular diseases, but will stimulate research. London, May 1987 Michael Swash Martin S. Schwartz Preface to the First Edition Neuromuscular diseases are common in clinical practice. Patients with these disorders may be referred to neurologists, rheumatologists, orthopaedic surgeons, paediatricians or to general physicians, and their investigation, utilising electromyography (EM G) and muscle biopsy, often requires the help of the clinical neurophysiologist and of the pathologist.