Year: 2012
Type: article
Abstract: Recent advances in the understanding of the genetics and basic mechanisms of neuromuscular diseases have been both rapid and spectacular.Furthermore, these advances have resulted in an expansion of the methods used for diagnosis-from routine clinical histologic and electrophysiologic tests to more specific techniques, such as biochemical and Western Blot analysis, and, most important, molecular genetic testing.These modern techniques have begun to replace more costly and painful procedures for some patients.Although the goal of our specialty is to find cures or effective treatments for neuromuscular disorders, the management of symptoms to improve quality of life is still paramount.Ambulation and survival can be prolonged with well-planned rehabilitation programs, orthopaedic surgery, and proper early management of cardiac, respiratory, and gastrointestinal complications, particularly in patients with motor neuron diseases and muscular dystrophy.Prolonged survival has changed the care of these patients.For example, in the past patients with Duchenne muscular dystrophy generally died of respiratory failure before they developed symptomatic cardiac disease; now they are living longer and require aggressive treatment of their cardiac complications to further prolong their lives.Many excellent textbooks and treatises dedicated to the understanding of the basic mechanisms of clinical and laboratory diagnoses of neuromuscular diseases also include discussions of treatment but this information is not comprehensive.In this text we aim to cover the current treatment and management of these subjects and to discuss promising experimental therapies.The introductory chapter is a brief overview of the Integrins in the development and pathology of skeletal muscle-information that we hope will be helpful to young clinicians.The next several chapters discuss neuromuscular disorders and their general management, such as rehabilitation, orthopaedic surgery, and cardiac, gastrointestinal, and respiratory care.The balance of the chapters covers specific diseases as well as the basic mechanisms of these disorders.The information in each chapter is intended to complement that in others, although occasionally there are minor repetitions.When possible, evidence-based treatment X Preface recommendations are given, particularly for the more common conditions, though we emphasize that the treatment of all patients should be individualized.For less common disorders, for which controlled trials have not yet been published, recommendations are based on published information and the authors' experience.
Author: Zaher, Ashraf
Institution: Mansoura University
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7208071235