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Neuromuscular Disorders Neurology in Practice: Series Editors: Robert A Neuromuscular Disorders neurology in practice: series editors: robert a. gross, department of neurology, university of rochester medical center, rochester, ny, usa jonathan w. mink, department of neurology, university of rochester medical center,rochester, ny, usa Neuromuscular Disorders edited by Rabi N. Tawil, MD Professor of Neurology University of Rochester Medical Center Rochester, NY, USA Shannon Venance, MD, PhD, FRCPCP Associate Professor of Neurology The University of Western Ontario London, Ontario, Canada A John Wiley & Sons, Ltd., Publication This edition fi rst published 2011, ® 2011 by Blackwell Publishing Ltd Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing program has been merged with Wiley’s global Scientifi c, Technical and Medical business to form Wiley-Blackwell. Registered offi ce: John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK Editorial offi ces: 9600 Garsington Road, Oxford, OX4 2DQ, UK The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, UK 111 River Street, Hoboken, NJ 07030-5774, USA For details of our global editorial offi ces, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell The right of the author to be identifi ed as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. 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No warranty may be created or extended by any promotional statements for this work. Neither the publisher nor the author shall be liable for any damages arising herefrom. Library of Congress Cataloging-in-Publication Data Neuromuscular disorders / edited by Rabi N. Tawil, Shannon Venance. p. ; cm. – (Neurology in practice) Includes bibliographical references and index. ISBN-13: 978-0-470-65456-9 (pbk. : alk. paper) ISBN-10: 0-470-65456-2 (pbk. : alk. paper) ISBN-13: 978-1-119-97330-0 (ePDF) ISBN-13: 978-1-119-97333-1 (Wiley online library) [etc.] 1. Neuromuscular diseases. I. Tawil, Rabi N. II. Venance, Shannon Lee,1959- III. Series: Neurology in practice. [DNLM: 1. Neuromuscular Diseases–diagnosis. 2. Neuromuscular Diseases–therapy. WE 550] RC925.5.N4733 2011 616.7’44–dc23 2011014999 A catalogue record for this book is available from the British Library. This book is published in the following electronic formats: ePDF 9781119973300; Wiley Online Library 9781119973331; ePub 9781119973317; mobi 9781119973324 Set in 8.75/11.75 pt Utopia by Toppan Best-set Premedia Limited 1 2011 Contents Contributor List viii Acknowledgment x Series Foreword xi Preface xii 1 Neuromuscular Diseases: Approach to Clinical Diagnosis 1 Shannon Venance and Rabi Tawil part i myopathies 2 Approach to Diseases of Muscle 9 Matthew P. Wicklund 3 Infl ammatory Myopathies 15 Steven A. Greenberg 4 Toxic Myopathies 22 Steven K. Baker 5 Metabolic Myopathies 30 Ingrid Tein 6 Mitochondrial Myopathies 42 Michio Hirano, Valentina Emmanuele, and Catarina M. Quinzii 7 Dystrophinopathies 51 Shannon L. Venance 8 Limb–Girdle Dystrophies 57 Michela Guglieri and Kate Bushby 9 Facioscapulohumeral Dystrophy 74 Constantine Farmakidis and Rabi Tawil 10 Myotonic Dystrophies 80 Nicholas Johnson and Chad R. Heatwole 11 Oculopharyngeal Muscular Dystrophy 87 Annie Dionne and Jean-Pierre Bouchard 12 Distal Myopathies 91 Bjarne Udd v vi · Contents 13 Muscle Channelopathies 96 James Burge and Michael G. Hanna 14 Congenital Myopathies 103 Nigel Clarke and Kathryn North part ii disorders of the neuromuscular junction 15 Approach to Diseases of the Neuromuscular Junction 113 Donald B. Sanders 16 Myasthenia Gravis 118 Michael K. Hehir and Emma Ciafaloni 17 Botulism 126 Nikhil Balakrishnan and Matthew N. Meriggioli 18 Lambert–Eaton Myasthenic Syndrome 134 Michael W. Nicolle 19 Congenital Myasthenic Syndromes 142 Andrew G. Engel part iii disorders of peripheral nerve 20 Approach to Diagnosis of Peripheral Nerve Disease 153 James C. Cleland and Eric L. Logigian 21 Hereditary Motor Sensory Neuropathies (Charcot–Marie–Tooth Disease) 162 Araya Puwanant and David N. Herrmann 22 Diabetic Neuropathies 170 Douglas W. Zochodne 23 Toxic and Metabolic Neuropathies 177 Kurt Kimpinski 24 Acute Infl ammatory Demyelinating Neuropathies and Variants 183 Mazen M. Dimachkie and Richard J. Barohn 25 Chronic Immune-mediated Demyelinating Polyneuropathies 190 Agnes Jani-Acsadi and Richard A. Lewis 26 Vasculitic Neuropathies 198 W. David Arnold and John T. Kissel 27 Paraneoplastic Neuropathies 204 Pariwat Thaisetthawatkul Contents · vii 28 Brachial and Lumbosacral Plexopathies 210 Kristine M. Chapman and Amanda Sherwin part iv disorders of motor neurons 29 Approach to Diseases of the Motor Neurons 223 Christen Shoesmith 30 Spinal Muscular Atrophy 229 Jacqueline Montes and Petra Kaufmann 31 Amyotrophic Lateral Sclerosis 236 Amy Chen and Hiroshi Mitsumoto 32 Neuromuscular Disorders in the Intensive Care Unit 243 Maxwell S. Damian and David Hilton-Jones Index 249 The colour plate section can be found facing page 228. Contributor List W. David Arnold, Department of Neurology, Maxwell S. Damian, Cambridge University Division of Neuromuscular Medicine, The Hospitals Department of Neurology, Ohio State University Medical Center, Addenbrooke ’ s Hospital Neurosciences Columbus, OH, USA Critical Care Unit, Cambridge, UK Steven K. Baker, Department of Medicine, Mazen M. Dimachkie, Neuromuscular Section, Physical Medicine and Neurology, Department of Neurology, University of Neuromuscular Disease Clinic, McMaster Kansas Medical Center, Kansas City, KS, USA University Medical Center, McMaster Annie Dionne, Department of Neurological University, Hamilton, Ontario, Canada Sciences, Universit é Laval, CHA H ô pital Nikhil Balakrishnan, Wake Forest University Enfant -J é sus, Qu é bec, Canada Baptist Medical Center, Winston Salem, NC, USA Valentina Emmanuele, Department of Neurology, Columbia University Medical Richard J. Barohn, Department of Neurology, Center, New York, NY, USA University of Kansas Medical Center, Kansas City, KS, USA Andrew G. Engel, Department of Neurology, Mayo Clinic, Rochester, MN, USA James Burge, MRC Centre for Neuromuscular Diseases, and National Hospital for Neurology Constantine Farmakidis, Columbia University and Neurosurgery, UCLH FT, London, UK Medical Center, Neurological Institute, New York, NY, USA Kate Bushby, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Steven A. Greenberg, Department of Neurology, Tyne, UK Brigham and Women ’ s Hospital and Harvard Medical School, Boston, MA, USA Jean - Pierre Bouchard, Department of Neurological Sciences, Universit é Laval, CHA Michela Guglieri, Institute of Genetic Medicine, H ô pital Enfant - Jé sus, Qu é bec, Canada International Centre for Life, Newcastle upon Tyne, UK Kristine Chapman, Division of Neurology, Michael G. Hanna, MRC Centre for University of British
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