Oxford Textbook of Neuromuscular Disorders Oxford Textbooks in Clinical Neurology Other titles in the Oxford Textbooks in Clinical Neurology series include: Oxford Textbook of Epilepsy and Epileptic Seizures, edited by Simon Shorvon, Renzo Guerrini, Mark Cook, and Samden Lhatoo Oxford Textbook of Vertigo and Imbalance, edited by Adolfo Bronstein Oxford Textbook of Movement Disorders, edited by David Burn Oxford Textbook of Neuroimaging, edited by Massimo Filippi (forthcoming) Oxford Textbook of Neurorehabilitation, edited by Volker Dietz and Nick Ward (forthcoming) Oxford Textbook of Neuro-oncology, edited by Tracy Batchelor, Ryo Nishikawa, Nancy Tarbell, and Michael Weller (forthcoming) Oxford Textbook of Cognitive Neurology and Dementia, edited by Masud Husain and Jonathan Schott (forthcoming) Oxford Textbook of Headache Syndromes, edited by Michel Ferrari, Joost Haan, Andrew Charles, David Dodick, and Fumihiko Sakai (forthcoming) Oxford Textbook of Clinical Neurophysiology, edited by Kerry Mills (forthcoming) Oxford Textbook of Neuromuscular Disorders Edited by David Hilton-Jones Nuffield Department of Clinical Neurosciences, West Wing, John Radcliffe Hospital, Oxford, UK Martin R. Turner Oxford University Department of Clinical Neurosciences & Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK Series Editor Christopher Kennard 1 3 Great Clarendon Street, Oxford, OX2 6DP, United Kingdom Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide. Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries © Oxford University Press 2014 The moral rights of the authors have been asserted First Edition published in 2014 Impression: 1 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, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, by licence or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above You must not circulate this work in any other form and you must impose this same condition on any acquirer Published in the United States of America by Oxford University Press 198 Madison Avenue, New York, NY 10016, United States of America British Library Cataloguing in Publication Data Data available Library of Congress Control Number: 2014930244 ISBN 978–0–19–969807–3 Printed in the UK by Bell & Bain Ltd, Glasgow Oxford University press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Except where otherwise stated, drug dosages and recommendations are for the non-pregnant adult who is not breast-feeding Links to third party websites are provided by Oxford in good faith and for information only. Oxford disclaims any responsibility for the materials contained in any third party website referenced in this work. Preface Th ere is a view that the traditional medical textbook is dead— comprehensive summary from an expert in a parallel fi eld. Although replaced by immediate accessibility to the latest literature and individual chapters cover specifi c disorders in detail, there is an the availability of cheap electronic mobile devices to enable the overarching aim, refl ected particularly in the fi rst three chapters, to reading or presentation of data in, literally, any environment. It is help the novice navigate the pathway from fi rst seeing the patient, to undoubtedly wonderful to be able to view the latest paper or sys- establishing the correct diagnosis, and optimal management. tematic review on the management of, say, Churg–Strauss vascu- We have been honoured to be able to assemble many of the opin- litic neuropathy in a matter of milliseconds, but only if that is the ion leaders from the various specialist fi elds of neuromuscular dis- correct diagnosis. Th e ready accessibility of the primary literature orders. Th roughout the volume the reader will benefi t from their is a boon to the specialist, but it is a potential minefi eld for the tyro. pearls of wisdom (as we did), many of which are never aired in We fi rmly believe that there is still a role for the textbook, but its formal scientifi c papers. aspirations need to be clearly defi ned and understood. Th is volume We hope that you will enjoy reading this book as much as we have on neuromuscular disorders is not primarily intended for neuro- enjoyed working with our friends and colleagues internationally to muscular specialists. However, given the ultra-specialization that bring it to you. We warmly extend our thanks to the contributors, sometimes exists, we hope they may still fi nd it helpful to have a and to Oxford University Press for making the venture possible. Contents Abbreviations ix 10 Familial amyloid polyneuropathy 82 Violaine Planté-Bordeneuve Contributors xv 11 Inherited metabolic neuropathies  85 Lionel Ginsberg SECTION 1 Approach to the Patient SECTION 4 1 Eliciting the history 3 Peripheral Nerve: Acquired David Hilton-Jones and Martin R. Turner 2 Genetic considerations 9 12 Mononeuropathy  93 Neil G. Simon and Matthew C. Kiernan David Hilton-Jones and Martin R. Turner 3 Examination 15 13 Multiple mononeuropathies  115 Eleanor A. Marsh and J. Gareth Llewelyn David Hilton-Jones and Martin R. Turner 14 Plexopathy 120 SECTION 2 David L. H. Bennett and Mohamed Mahdi-Rogers Anterior Horn 15 Polyneuropathies: axonal  132 Camiel Verhamme and Ivo N. van Schaik 4 Amyotrophic lateral sclerosis 25 Kevin Talbot and Martin R. Turner 16 Polyneuropathies: demyelinating 143 Pieter A. van Doorn and Judith Drenthen 5 Spinal muscular atrophy and hereditary motor neuropathy 38 17 Diabetic neuropathy 158 Dirk Bäumer and Kevin Talbot Stephen A. Goutman, Andrea L. Smith, Stacey A. Sakowski, and Eva L. Feldman 6 Kennedy disease 48 Christopher Grunseich and Kenneth Fischbeck 18 Peripheral nerve hyperexcitability disorders 167 7 Poliomyelitis 51 David Hilton-Jones Robin S. Howard SECTION 3 SECTION 5 Peripheral Nerve: Inherited Neuromuscular Junction: Inherited and Acquired 8 Charcot–Marie–Tooth disease 61 Mary M. Reilly and Alexander M. Rossor 19 Inherited myasthenic syndromes 175 Jacqueline Palace and Sarah Finlayson 9 Hereditary sensory and autonomic neuropathies 75 20 Myasthenia gravis 184 Michaela Auer-Grumbach Saiju Jacob, Stuart Viegas, and David Hilton-Jones viii contents 2 1 Th e Lambert–Eaton myasthenic 2 9 Metabolic myopathies   288 syndrome 1 95 Mette C. Ørngreen and John Vissing Maarten J. Titulaer and Jan J. G. M. Verschuuren 3 0 Mitochondrial cytopathies 302 Gerald Pfeff er and Patrick F . Chinnery SECTION 6 3 1 Skeletal muscle channelopathies   3 16 Muscle Emma Matthews and Michael G.   Hanna 2 2 Th e dystrophinopathies   205 3 2 Idiopathic infl ammatory myopathies   326 Kevin M. Flanigan Marianne de   Visser and Anneke J. van der   Kooi 2 3 Limb-girdle muscular dystrophies 219 3 3 Drug-induced neuromuscular disorders  3 38 Fiona L.M. N orwood and Kate   Bushby Zohar   Argov 2 4 Th e congenital muscular dystrophies 229 3 4 Endocrine myopathies 3 47 Emma Clement and Heinz Jungbluth Merrilee Needham and Frank Mastaglia 2 5 Th e myotonic dystrophies 243 Chris Turner and David   Hilton-Jones SECTION 7 Acute Neuromuscular Consults 2 6 Facioscapulohumeral muscular dystrophy 2 54 Elly L. van der   Kooi , Silvere van der   Maarel , and 3 5 Th e neuromuscular emergency consult 3 57 Baziel G.M. van Engelen Peter Connick and Maxwell S.   Damian 2 7 Distal and myofi brillar myopathies   264 3 6 Critical care of neuromuscular disorders 3 60 Bjarne   Udd Maxwell S.   Damian 2 8 Congenital/ultrastructural myopathies 2 77 Gianina Ravenscroft, Nigel F.  C larke , and Nigel G.   Laing I ndex 3 67 Abbreviations AAV ANCA-associated vasculitis/ BM Bethlem myopathy adeno-associated virus BMD Becker muscular dystrophy ABC ATP-binding cassette bpm beats per minute ABD actin-binding domain BVVL Brown–Vialetto–Van Laere [syndrome] ABG arterial blood gases CADM clinically amyopathic dermatomyositis ACE angiotensin-converting enzyme CAN cardiac autonomic neuropathy ACh acetylcholine c-ANCA cytoplasmic ANCA AChE acetylcholinesterase CANOMAD chronic ataxic neuropathy, ophthalmoplegia, AChR acetylcholine receptors monoclonal protein, cold agglutinins, and A-CIDP CIDP with acute onset disialosyl antibodies ACTH adrenocorticotropic hormone CASQ calsequestrin AD autosomal dominant CB conduction block ADA American Diabetes Association CBC complete blood cell count ADG α-dystroglycan CCD central core disease ADM abductor digiti minimi CFTD congenital fibre-type disproportion ADQB abductor digiti quinti brevis CGH comparative genomic hybridization AFO ankle–foot orthosis ChAT choline acetyltransferase AGEs advanced glycation endproducts CHN congenital hypomyelinating neuropathies AIDP acute inflammatory demyelinating CI confidence interval polyneuropathy CIAP chronic idiopathic axonal polyneuropathy AIMG autoimmune myasthenia gravis CIDP chronic inflammatory demyelinating AIN anterior interosseous nerve polyneuropathy AKI acute kidney injury CIM critical Illness myopathy ALD adrenoleucodystrophy CIP critical illness polyneuropathy ALS amyotrophic lateral sclerosis CIPA congenital insensitivity to pain and anhidrosis ALT alanine aminotransferase CK creatine kinase ALSFRS ALS Functional Rating Scale ClC-1 muscle-specific chloride channel 1 AMAN acute motor axonal neuropathy CMAP compound muscle action potential AMC arthrogryposis multiplex congenita CMD congenital muscular dystrophy AMCBN acute motor conduction block neuropathy CMS congenital myasthenic syndromes AMN adrenomyeloneuropathy CMT Charcot–Marie–Tooth [disease] AMSAN acute motor and sensory axonal neuropathy CNM centronuclear myopathy ANA antinuclear antibody CNS central nervous system ANCA antineutrophil cytoplasmic antibody ColQ collagen-Q AON antisense oligonucleotide CoQ coenzyme Q10 10 APB abductor pollicis brevis COX cytochrome c oxidase APL abductor pollicis longus COX-2 cyclooxygenase-2 AR autosomal recessive/androgen receptor/aldose CPAP continuous positive airway pressure reductase CPEO chronic progressive external ophthalmoplegia ARB angiotensin receptor blocker CPK creatine phosphokinase ARDS acute respiratory distress syndrome CPN common peroneal neuropathy/common ARS aminoacyl-tRNA synthetase peroneal nerve AST aspartate aminotransferase CPT carnitine palmitoyltransferase ATGL adipose triglyceride lipase CSF cerebrospinal fluid BiPAP bilevel positive airway pressure CSS Churg–Strauss syndrome