Neuromuscular Diseases

Neuromuscular Diseases PDF Author: Michael Swash
Publisher: Springer Science & Business Media
ISBN: 1447138341
Category : Medical
Languages : en
Pages : 548

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Book Description
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.

Neuromuscular Diseases

Neuromuscular Diseases PDF Author: Michael Swash
Publisher: Springer Science & Business Media
ISBN: 1447138341
Category : Medical
Languages : en
Pages : 548

Get Book Here

Book Description
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.

Atlas of Neuromuscular Diseases

Atlas of Neuromuscular Diseases PDF Author: Eva L. Feldman
Publisher: Springer
ISBN: 3709116058
Category : Medical
Languages : en
Pages : 335

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Book Description
This atlas presents a comprehensive outline of neuromuscular diseases, written by respected American and European authors. It discusses all aspects of neuromuscular disorders including cranial and spinal nerves, motor neuron diseases, nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, neuromuscular junctions, and muscle disease. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy and prognosis. The diagnostic tools in neuromuscular disease are explained and practical guidelines are offered on how to advance from symptoms to syndromes. The therapeutic options for each disease are also described. In this new edition, the structure of the chapters has been reorganized and chapters on principles of peripheral nerves, nerve pain, nerve surgery and rehabilitation have been added. The current trend of increased use of imaging techniques such as US and MRI in the diagnosis and follow-up of neuromuscular disorders is also reflected.

Neuromuscular Disorders in Clinical Practice

Neuromuscular Disorders in Clinical Practice PDF Author: Bashar Katirji
Publisher: Springer Science & Business Media
ISBN: 1461465672
Category : Medical
Languages : en
Pages : 1565

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Book Description
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.

Neuromuscular Disorders

Neuromuscular Disorders PDF Author: Anthony Amato
Publisher: McGraw Hill Professional
ISBN: 0071641068
Category : Medical
Languages : en
Pages : 789

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Book Description
Everything you need to know about neuromuscular disease-in one concise, full-color volume Neuromuscular Disorders is comprehensive in scope, yet concise enough to serve as a valuable point-of-care guide for your day-to-day clinical practice. Grounded by numerous reference sources and enhanced by the experience of two seasoned clinicians, this text provides a pragmatic approach to the evaluation and management of neuromuscular disease. Here, in a single source, you'll get an insightful look at both nerve and muscle conditions, ranging from motor neuron diseases to neuropathies, neuromuscular junction disorders, and myopathies. The book opens with the clinical and laboratory approach to patients with neuromuscular disease, covering electrodiagnostic testing, nerve conduction studies, and muscle and nerve histopathology. With an emphasis on effective diagnosis and treatment, the substance of the text examines the full spectrum of specific neuromuscular diseases, giving you the “big picture” of the discipline in a way that no other text can match. FEATURES: Convenient coverage of both nerve, muscle and neuromuscular transmission disorders-both primary and secondary neuromuscular diseases Specific disease sections encompass the range of conditions likely to be encountered in clinical practice, including amyotrophic lateral sclerosis, myasthenia gravis, radiculopathies and plexopathies, mononeuropathies, various polyneuropathies, toxic myopathies, and dozens more The very latest diagnosis and treatment recommendations and protocols based on the most recent clinical literature and research Well-illustrated with EMGs, histopathology, and clinical photos

Genetic Neuromuscular Disorders

Genetic Neuromuscular Disorders PDF Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392

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Book Description
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.

Neuromuscular Case Studies

Neuromuscular Case Studies PDF Author: Tulio E. Bertorini
Publisher: Elsevier Health Sciences
ISBN: 0702038695
Category : Medical
Languages : en
Pages : 661

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Book Description
In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You'll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. - More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. - Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. - Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. - Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. - A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. - More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.

Neuromuscular Disorders

Neuromuscular Disorders PDF Author: Satish V. Khadilkar
Publisher: Springer
ISBN: 9811053618
Category : Medical
Languages : en
Pages : 534

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Book Description
This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.

Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Neuromuscular Disorders of Infancy, Childhood, and Adolescence PDF Author: Basil T. Darras
Publisher: Elsevier
ISBN: 0124171273
Category : Medical
Languages : en
Pages : 1156

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Book Description
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

Atlas of Neuromuscular Diseases

Atlas of Neuromuscular Diseases PDF Author: Eva L. Feldman
Publisher: Springer Nature
ISBN: 3030634493
Category : Medical
Languages : en
Pages : 364

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Book Description
This atlas offers a comprehensive overview of neuromuscular diseases. It discusses all aspects of neuromuscular disorders, including general tools, the cranial and spinal nerves, the nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, the neuromuscular junction, motor neuron diseases, muscle disease, and autonomic involvement. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy, and prognosis. The diagnostic tools used for neuromuscular disease are explained, and the therapeutic options for each disease are described. This updated third edition includes new chapters addressing a range of topics: from histology to molecular mechanisms, genetic aspects, the mechanisms of emerging new therapies, neuroimaging, neuromuscular disease, and new pathogenic mechanisms. The book aims to be a useful companion for neuromuscular disease. The homogenous structure, illustrations with figures, and representative images makes the atlas easy to read and helpful in understanding neuromuscular problems.

Muscular Dystrophy and Other Neuromuscular Diseases

Muscular Dystrophy and Other Neuromuscular Diseases PDF Author: Leon I. Charash
Publisher: Routledge
ISBN: 1317765656
Category : Medical
Languages : en
Pages : 264

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Book Description
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.