Malattie neuromuscolari

Childhood neuromuscular disorders differ from adult diseases and require much experience to evaluate. However, most neurologists trained in EMG have little experience evaluating children or infants. This book, written by a stellar list of world-class experts in paediatric neuromuscular diseases, provides clinicians with the knowledge they need to successfully diagnose and treat their paediatric patients.

This new two-volume reference offers a practical approach to diseases of the muscle, neuro-muscular junction, and spinal cord. Volume I emphasizes the pathophysiology of neuromuscular disease and its assessment using electrophysiological and radiological tools. Volume II focuses on the application of electrophysiological testing to the diagnosis and management of specific neuromuscular disorders. Edited by three respected experts, this essential resource also explores HIV, clinical trials, and neuromuscular disorders in critical care and the operating room.

A large percentage of patients seen by a general neurologist have neuromuscular disorders. Many of these disorders have specific courses of treatment; however, when there is no specific treatment, the therapy is aimed at controlling symptoms, retarding progression, increasing the time of remission, and improving the quality of the patient's life. "Neuromuscular Diseases: Expert Clinicians' Views" emphasizes practical guidelines for diagnosis and treatment that have been proven successful in the contributors' experience. This clinical reference is essential for all practitioners involved in the care of patients with muscular dystrophies, congenital myopathies, myasthenia gravis, and other neuromuscular diseases.

The term "muscular dystrophy" (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the MDs by a c- bination of positional cloning and candidate gene analysis has provided the basis for a reclassification of these disorders, with genetic and protein data augmenting traditional clinically based nomenclature. These findings have brought insights into the molecular pathogenesis of MD, with an increasing number of potential pathways involved in arriving at a dystrophic phenotype. Some common themes can be recognized, however, including the involvement of five members of the dystrophin-associated complex (dystrophin and four sarcoglycans) in different types of MD, and the involvement of two nuclear envelope proteins in producing an Emery-Dreifuss MD phenotype. Other d- ease-associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain 3 in a form of limb-girdle muscular dystrophy. Section 1 of Muscular Dystrophy: Methods and Protocols reviews tra- tional strategies used to identify MDs. Meantime, techniques developed as a result of the research strategies described previously have become an integral part of the management of many patients with MD and their families, and these techniques are addressed in Sections 2 (DNA-based tests) and 3 (p- tein-based analyses). The continued effort to translate this enhanced und- standing into a molecular cure or treatment for MD is reviewed in Section 4.

The term neuromuscular disorders covers a wide range of conditions varying in age of onset, severity, and speed of progression but which share many common management issues. Written by a multidisciplinary author team for all those involved in the overall care and management of such individuals, this handbook smooths the journey for patients and carers through the complex maze of management issues relating to their condition. Extensively illustrated throughout, Neuromuscular Disorders in the Adult concentrates on the care of the adult patient - including those who may have acquired their disability during childhood, providing practical advice and support for all professionals working with people with muscular dystrophy and other neuromuscular disorders.

Drawing on the disciplines of neurophysiology and physics, this book explores how the nervous system controls the actions of muscles to produce human motion in relation to biomechanical principles. It offers an introduction to the biomechanical terms and concepts used to describe movement, focusing on the relation between force and motion.