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.

Succinct yet comprehensive, Aminoff's Diagnosis of Neuromuscular Disorders, 4th Edition, provides expert information and guidance on the clinical, electrodiagnostic, and imaging aspects of neuromuscular disorders. Fully updated, it reflects important advances in the field, including an improved understanding of the molecular and genetic basis of neuromuscular disease, an expanded use of next-generation genetic testing, refinements in electrodiagnosis, and the use of ultrasound imaging techniques to evaluate the peripheral nervous system. In-depth discussions of disease states, as well as the evidence supporting the use of electrodiagnostic and imaging techniques, moves this reference from simply answering the question "How?" to also answering "Why?" - Describes the range of clinical manifestations of individual neuromuscular diseases; the power and limitations of electrodiagnostic techniques as they relate to neuromuscular disorders; the place of genetic studies in the diagnosis and prognostication of these diseases; and the scope and utility of newer imaging procedures in detecting and localizing the underlying pathologic process. - Reviews neuromuscular physiology and the pathology of major diseases. - Provides a readable, well-illustrated synthesis of clinical and investigative techniques in diagnosing neuromuscular diseases, with concise guidance on how to conduct clinical, electrodiagnostic, and ultrasound evaluations and the findings in various disease states. - Covers a wide variety of electrodiagnostic and ultrasound procedures, including techniques for evaluating different individual nerves. - Features video clips of waveforms and of ultrasound images to illustrate key concepts. - An ideal resource for neuromuscular specialists, clinical neurologists, physiatrists, rehabilitation specialists, clinical neurophysiologists, and electromyographers, as well as trainees and those preparing for board certification in neurology, PM&R, neuromuscular medicine, clinical neurophysiology, and electrodiagnostic medicine. - Any additional digital ancillary content may publish up to 6 weeks following the publication date.

'The Oxford Textbook of Neuromuscular Disorders' covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders, with a particular focus on the most clinically relevant disorders

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

Offering an authoritative, multidisciplinary approach to the complex issues associated with neuromuscular disease, Neuromuscular Disorders, 2nd Edition, provides the latest tools and strategies for minimizing disability and maximizing quality of life. Dr. Tulio Bertorini, an expert in clinical neuromuscular care, and a team of world-renowned contributors cover all management and therapeutic considerations regarding the full range of neuromuscular disorders and resulting complications. - Provides comprehensive coverage of evaluation and diagnosis, treatments, and outcomes, including the latest management tools and targeted therapeutic strategies. - Includes the latest updates in the field: genetic causes of hereditary disease, new autoimmune diseases, promising new therapies such as antisense oligonucleotides and gene therapies, and more. - Features numerous drug tables, treatment algorithms, and clinical images throughout to aid in diagnosis and treatment. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

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.

This book evaluates muscle and nerve biopsies. It creates a more analytical view of neuromuscular diseases in the light of clinical findings. Diseases that occur mostly in muscle or nerve tissue may show common clinical findings. Addressing these two issues together will make it easier to understand the diseases. Neuromuscular diseases, normal histology, embryology, and physiopathology of muscles and nerves are discussed with a main focus on differential diagnosis. The book also presents the most cost-effective and easiest-to-follow algorithms for the differential diagnosis of diseases.

This compilation arises from contributions made to the seventh postgraduate course in paediatric neurology held in Pavia, Italy under the auspices of the Mariani Foundation in co-operation with the National Neurologic Institute of Milan. The course concentrated on three main areas: the impact of molecular biology and molecular genetics on aetiology, advances in our understanding pathogenesis, and finally therapy. The choice of the subject was suggested by the remarkable progress has been made in this field during the last decade, mostly due to the recent advances in genetics which now enable a new nosographic approach as well as different diagnostic strategies. Part of this work is dedicated to the rehabilitation of patients affected by neuromuscular diseases.

Diagnose neuromuscular disorders more quickly and accurately with Electromyography and Neuromuscular Disorders: Clinical-Electrophysiologic Correlations, 3rd Edition! State-of-the-art guidance helps you correlate electromyographic and clinical findings and use the latest EMG techniques to their fullest potential. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Successfully correlate electrodiagnostic findings with key clinical findings for more confident diagnoses. Clearly see how to apply what you’ve learned with abundant case studies throughout the book. Obtain relevant clinical guidance quickly and easily with an accessible, easy-to-read writing style that’s both comprehensive and easy to understand. Ensure correct EMG needle placement and avoid neurovascular injuries by referring to more than 65 detailed, cross-sectional anatomy drawings. Diagnose many newly defined genetic neuromuscular conditions based on their electrodiagnostic presentation. Stay up to date with must-know information on iatrogenic complications of electrodiagnostic studies. Visualize key concepts more easily with a brand-new full-color design, new artwork, and new photographs. Access Electromyography and Neuromuscular Disorders online, fully searchable, at www.expertconsult.com, along with more than 70 videos that allow you to see and hear the EMG waveforms discussed in the text, as well as a convenient "test yourself" module.

Neuromuscular disease is a broad term that encompasses many diseases and ailments that either directly or indirectly impair the function of the body's muscle system, via the nerves. This issue of PMR will provide an overview of current treatments and therapies for a variety of diseases. The GEs have gone through every issue published since 1998, and these 23 chapters will be meant to fill the numerous gaps in PMR's coverage of the field over the past decade. The issue will include chapters on different treatment techniques, such as exercises, stretches, and nutrition. It will also provide chapters focusing on specific areas of the body, specific conditions, and an update on mobility technology for those with NMDs.