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The Muscular Dystrophies
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Book Synopsis Muscular Dystrophy by : Raymond A. Huml
Download or read book Muscular Dystrophy written by Raymond A. Huml and published by Springer. This book was released on 2015-07-16 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.
Book Synopsis The Muscular Dystrophies by : Alan E. H. Emery
Download or read book The Muscular Dystrophies written by Alan E. H. Emery and published by . This book was released on 2001 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy. Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.
Book Synopsis Duchenne Muscular Dystrophy by : Alan E. H. Emery
Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by OUP Oxford. This book was released on 2015-02-19 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
Book Synopsis Muscular Dystrophies by : Robert C. Griggs
Download or read book Muscular Dystrophies written by Robert C. Griggs and published by Elsevier. This book was released on 2011-05-24 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. It summarizes the advances in molecular and cell biology, biochemistry, and other biological sciences, with an emphasis on their application to this group of muscle disorders and to their clinical implications. Starting with an overview of muscular dystrophies, the book’s 16 chapters discuss dystrophinopathies; sarcoglycanopathies; congenital muscular dystrophies; collagen VI-related myopathies; limb-girdle muscular dystrophy 2A; dysferlinopathies; limb-girdle muscular dystrophy 2H and the role of TRIM32; and caveolinopathies. The book also covers myofibrillar myopathies; Emery–Dreifuss muscular dystrophy; facioscapulohumeral dystrophy and scapuloperoneal syndromes; oculopharyngeal muscular dystrophy; myotonic dystrophy types 1 and 2; and distal muscular dystrophies. This book is useful to basic investigators, as it offers an increased understanding of muscular dystrophies; and to clinicians, with its emphasis on issues that are relevant to the care, diagnosis, and management of patients with these disorders. Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies An evaluation of the way advances in molecular and cell biology, biochemistry, and other biological sciences continue to advance the study of these disorders
Book Synopsis Muscular Dystrophy by : National Institute of Neurological Diseases and Stroke
Download or read book Muscular Dystrophy written by National Institute of Neurological Diseases and Stroke and published by . This book was released on 1971 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Disorders of Voluntary Muscle by : George Karpati
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Book Synopsis 100 Questions and Answers about Muscular Dystrophy by : Kathryn Wagner
Download or read book 100 Questions and Answers about Muscular Dystrophy written by Kathryn Wagner and published by Jones & Bartlett Publishers. This book was released on 2020-06 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.
Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras
Download or read book Neuromuscular Disorders of Infancy, Childhood, and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1160 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Molecular Mechanisms of Muscular Dystrophies by : Steve J. Winder
Download or read book Molecular Mechanisms of Muscular Dystrophies written by Steve J. Winder and published by CRC Press. This book was released on 2019-12 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is no doubt that the study of the muscular dystrophies in recent years has been exciting and rewarding. It has attracted the attention of many investigators of international repute, and this is reflected in the various contributions to this volume. Molecular Mechanisms of Muscular Dystrophies represents a personal collection of chapters covering a spectrum of muscular dystrophies and one myopathy that represent most of the major muscular dystrophies, and, in particular, those where a molecular understanding of the underlying mechanisms is most advanced, rather than a comprehensive treatise on every muscular dystrophy so far characterized.
Book Synopsis Neuromuscular Imaging by : Mike P. Wattjes
Download or read book Neuromuscular Imaging written by Mike P. Wattjes and published by Springer Science & Business Media. This book was released on 2013-06-05 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging
Book Synopsis Muscular Dystrophy by : Corrado Angelini
Download or read book Muscular Dystrophy written by Corrado Angelini and published by Nova Science Publishers. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Muscle Disease written by Hans H. Goebel and published by John Wiley & Sons. This book was released on 2013-05-29 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc. Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter. For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters. This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.
Book Synopsis Myopathology by : Balan Louis Gaspar
Download or read book Myopathology written by Balan Louis Gaspar and published by Springer. This book was released on 2018-09-24 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.
Book Synopsis Occupational Therapy and Duchenne Muscular Dystrophy by : Kate Stone
Download or read book Occupational Therapy and Duchenne Muscular Dystrophy written by Kate Stone and published by John Wiley & Sons. This book was released on 2007-09-27 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a practical guide for Occupational Therapists and others who provide services to people who have Duchenne muscular dystrophy. The goal of the book is to deepen the readers understanding of the support that occupational therapists can offer to families who are affected by this condition. Written by experienced occupational therapists with a special interest in Duchenne muscular dystrophy. The book will provide information and support to therapists who may be working in isolation, or who rarely work with this client group. It is for the experienced therapist as well as the student. Each chapter of this book gives a clear and comprehensive description of different aspects of occupational therapy assessments and interventions.
Book Synopsis Muscular Dystrophy by : Madhuri Hegde
Download or read book Muscular Dystrophy written by Madhuri Hegde and published by BoD – Books on Demand. This book was released on 2012-05-09 with total page 558 pages. Available in PDF, EPUB and Kindle. Book excerpt: With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.
Book Synopsis Genetic Neuromuscular Disorders by : Corrado Angelini
Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2017-10-05 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Book Synopsis Muscle Gene Therapy by : Dongsheng Duan
Download or read book Muscle Gene Therapy written by Dongsheng Duan and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.
