Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution. In the field of patients’ diagnosis, several advances have been done by recognising new entities. New techniques such as biochemical, molecular advancements, and the use of muscle MRI are collected that allow rapid diagnosis. Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies and some novel treatments in glycogen storage disease by enzyme replacement are proposed. Both rehabilitation techniques and other treatments deserve particular attention for the improvements observed.
Table of Contents
Preface; Muscular Dystrophy: The Present & the Future; History & Pathogenesis of Dystrophies; Biomarkers & Genetic Risk; Inflammation in Duchenne Muscular Dystrophy; MRI Involvement in Muscular Dystrophy; Clinical Scales for Evaluation of Muscular Dystrophies; Dystrophinopathies; Scapulo-peroneal Dystrophy; Facio Scapulo Humeral Muscular Dystrophy; Limb Girdle Muscular Dystrophies; Myotonic Dystrophy Type 1: Clinical Features; DM2: Clinical Features; Desminopathies; Myofibrillar Myopathies; Mitochondrial Myopathies & Ocular Myopathies; Dysferlinopathies; Anoctamine 5 Myopathies; Health Support: Health Promotion For Family Having A Child with DMD; Psychosocial Stress & Coping Strategies of Parents with Duchenne Muscular Dystrophy Children during the Middle Stage; Rehabilitation in Muscular Dystrophy; Cardiac Problems in DMD; Ventilatory Assistance; GSDII & ERT; Drugs Interfering With Ubiquitin-Proteasome & Autophagy-Lysosome Systems To Treat Muscular Dystrophy; Muscle & Bone in Muscular Dystrophy: Why Not?"; Treatment with Steroids of DMD; The Emerging Biology of Muscle Stem Cells & their Therapy Strategies in Muscular Dystrophy; Index.