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Neuromuscular Disorders in Clinical Practice Neuromuscular Disorders in Clinical Practice Bashar Katirji • Henry J. Kaminski • Robert L. Ruff Editors Neuromuscular Disorders in Clinical Practice Second Edition Editors Bashar Katirji Robert L. Ruff Neuromuscular Center & EMG Laboratory Department of Neurology Department of Neurology Louis Stokes Cleveland VA Medical Center and The Neurological Institute Case Western Reserve University School of Medicine University Hospitals Case Medical Center and Mail Stop 127(W) Case Western Reserve University Cleveland , OH , USA School of Medicine Cleveland , OH , USA Henry J. Kaminski Department of Neurology George Washington University Washington , DC , USA ISBN 978-1-4614-6566-9 ISBN 978-1-4614-6567-6 (eBook) DOI 10.1007/978-1-4614-6567-6 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2013942017 © Springer Science+Business Media New York 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, speci fi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on micro fi lms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied speci fi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a speci fi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) To our families, friends, and colleagues without whose support this work could not have been completed. To my wife Patricia, our children Linda and Michael, my parents Zakaria and Malak, and my brothers Hassan and Ammar. –BK To all those dear to me, my father Edmund and mother Janina, my brother Ed, my second mother Louise and her husband Robert, but most of all the source of all that is good in my life, Adam, my boy and Linda, my wife. –HJK To daughters Emily and Elizabeth; my wife Suzanne and her children Julia, Daniel, and Antoine; Julia’s husband Greg; and Dan’s wife Nicole and grandchildren Matthew, Hannah, and Abigail. –RLR Preface Over a decade ago, the editors appreciated a need for a single textbook that would cover comprehensively all aspects of the broad fi eld of neuromuscular disease, which ultimately led to the publication of the fi rst edition of Neuromuscular Disorders in Clinical Practice . The book attempts to be comprehensive and clinically oriented with the goal of discussing all disorders of the peripheral nervous system and the techniques used to assess these disorders. It thus parallels other neurology subspecialty texts, such as those for epilepsy or cerebrovascular disease, or internal medicine subspecialty books, such as those for rheumatology, endocrinology, or cardiology. The second edition mimics the organization of the fi rst. The book is divided into two parts, Part one discusses the approach to neuromuscular disorders followed by Part two dedicated to speci fi c neuromuscular disease. Part one begins with an introduction to the clinical assessment of neuromuscular disorders; though it is not meant to duplicate available monographs on neurological examination, the chapter sets the stage for the evaluation of patients with neuromuscular disease. The second chapter provides concise overview of basic anatomy and physiology of nerves and muscles. The next subsection covers investigative techniques used in evaluating neuromuscular diseases. These include laboratory studies (muscle enzymes, autoan- tibodies, and exercise testing) and clinical neurophysiology procedures (clinical EMG, single fi ber EMG, quantitative EMG analysis, quantitative sensory testing, autonomic testing), as well as nerve and muscle pathology. The new edition adds a chapter in skin biopsy performance and evaluation. The chapter on Molecular Diagnosis and Genetic Testing is updated extensively matching the signi fi cant knowledge increase in the last 10 years in this area. The fi nal subsection of Part one is broad with discussions of assessment and treatment of neuromuscular disorders. Individual chapters include quantitative assessment and outcome measures, rehabilitation, immunotherapy, and critical and respiratory care in the management of patients with neuromuscular diseases. Part two provides detailed discussions of speci fi c neuromuscular disorders. Most chapters are organized into etiology and pathogenesis, clinical presentation, differential diagnosis, evaluation and diagnosis, treatment and management, and prognosis. This approach was used in order to highlight the clinical emphasis of the book and correlate the clinical, electrodiag- nostic, pathological, biochemical, and genetic aspects of neuromuscular disorders. Part two is divided into six subparts. Section one deals with disorders of the motor neuron and dorsal root ganglia (neuronopathies). Section two covers all the peripheral neuropathies including inher- ited and acquired polyneuropathies, mononeuropathies, radiculopathies, and plexopathies. Section three discusses neuromuscular junction disorders. Section four reviews muscle chan- nelopathies, with a chapter devoted to disorders of muscle membrane excitability, including the periodic paralyses, non-dystrophic myotonias and related disorders, and a separate chapter on malignant hyperthermia. Section fi ve is devoted to the inherited and acquired myopathies. Section six is devoted to the numerous conditions that do not fi t neatly into one disorder or cross boundaries to other areas of the nervous system. The section discusses disorders of nerve hyperexcitability, including myokymia, neuromyotonia, muscle cramps, and fasciculations, as well as central nervous system disorders with neuromuscular manifestations, including stiff- man syndrome, and tetanus. Miscellaneous syndromes with neuromuscular presentations are vii viii Preface discussed, including paraneoplastic neuromuscular disorders, weakness in the intensive care unit, the fl oppy infant, rhabdomyolysis/myoglobinuria, and the fasciitis syndrome. The book ends with a chapter on neuropathic chronic musculoskeletal pain. The second edition of Neuromuscular Disorders in Clinical Practice 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 fi nd this book inclusive and compre- hensive, yet practical and clinically relevant. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will fi nd the book useful in their practice. The contributors are an internationally recognized group of clinicians and scientists special- izing in neuromuscular disorders, which allows for an appreciation of not only the science but the art of patient care. It is our hope that this text will provide the reader with the true fl avor of, the nuances of, and the breadth and depth of the subspecialty fi eld of neuromuscular disorders and thus enhance the care of patients with these conditions. Cleveland, OH, USA Bashar Katirji Washington, DC, USA Henry J. Kaminski Cleveland, OH, USA Robert L. Ruff Acknowledgments We gratefully acknowledge our present and former colleagues, fellows, and residents who have taught us and encouraged us throughout our careers. In addition, we are deeply indebted to Dr. Robert B. Daroff, whose guidance, support, and inspiration have been instrumental in our roles as physicians, teachers, and writers. We also thank Maria Smilios for keeping us organized and moving throughout the entire process. We thank Richard Lansing of Springer Publishing for appreciating the value of a new edition of Neuromuscular Disorders in Clinical Practice . ix Contents Part I Approach to Neuromuscular Diseases: Principles and Basics 1 Clinical Assessment in Neuromuscular Disorders . 3 Bashar Katirji 2 Nerve and Muscle: Basic Concepts. 21 Francisco H. Andrade Part II Approach to Neuromuscular Diseases: Neuromuscular Investigations 3 Serum Muscle Enzymes in Neuromuscular Disease . 39 Rahila Ansari and Bashar Katirji 4 Autoantibody Testing in Peripheral Neuropathy . 51 Alan Pestronk 5 Autoantibody Testing of Autoimmune Neuromuscular Junction, Hyperexcitability, and Muscle
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