Neuromuscular Diseases: A Practical Approach to Diagnosis and Management PDF
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Neuromuscular Diseases A Practical Approach to Diagnosis and Management Springer-Verlag London Ltd. Michael Swash and MartinS. Schwartz Neuromuscular Diseases A Practical Approach to Diagnosis and Management Third Edition With 219 Figures t Springer Michael Swash MD, FRCP, FRCPath Professor of Neurology and Consultant Neurologist, St Bartholomew's and The Royal London Hospital School of Medicine and Dentistry at Queen Mary Westfield College, and The Royal London Hospital, London El lBB, UK Martin S. Schwartz MD, FRCP Consultant Clinical Neurophysiologist, Atkinson Morley's Hospital, London SW20 ONE, UK, and Honorary Consultant Neurologist, St George's Hospital, London SW19 ORE, UK ISBN 978-1-4471-3836-5 British Library Cataloguing in Publication Data Neuromuscular diseases: a practical approach to diagnosis and management.-3rd ed. 1. Neuromuscular diseases I. Swash, Michael, 1939- II. Schwartz, MartinS. (Martin Samuel) 616.7' 44 ISBN 978-1-4471-3836-5 ISBN 978-1-4471-3834-1 (eBook) DOI 10.1007/978-1-4471-3834-1 Library of Congress Cataloging-in-Publication Data Neuromuscular diseases: a practical approach to diagnosis and management I Michael Swash and MartinS. Schwartz (eds.).-3rd ed. p. em. Rev. ed. of: Neuromuscular diseases I Michael Swash, Martin S. Schwartz. 2nd ed. c 1988. Includes bibliographical references and index. ISBN 978-1-4471-3836-5 1. Neuromuscular diseases. I. Swash, Michael. II. Schwartz, MartinS. (Martin Samuel), 1941- [DNLM: 1. Neuromuscular Diseases-diagnosis. 2. Neuromuscular Diseases-therapy. WE 550 N4943 1997] RC925.S95 1997 616.7' 44-dc21 DNLMIDLC for Library of Congress 96-39564 Apart from any fair dealing for the purposes of research or private study, or criticism or review, as permitted under the Copyright, Designs and Patents Act 1988, this publication may only be reproduced, stored or transmitted, in any form or by any means, with the prior permission in writing of the publishers, or in the case of reprographic reproduction in accordance with the terms of licences issued by the Copyright Licensing Agency. Enquiries concerning reproduction outside those terms should be sent to the publishers. ©Springer-Verlag London L981, 1988,1997 Originally published by Springer-Verlag Berlin Heidelberg New York in 1997 Softcover reprint of the hardcover 3rd edition 1997 The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant laws and regulations and therefore free for general use. Product liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. Typeset by EXPO Holdings, Malaysia 2813830-543210 Printed on acid-free paper We dedicate this the third edition of this monograph to the memory of Michael jackson, publisher, whose enthusiasm in 1980-1981 first encouraged us to write this book. Preface to the Third Edition 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. For the patient, however, what is required is prognostic and, when relevant, genetic advice and, ultimately, relief of symptoms by therapy. These aims and expectations are mutually compatible, but knowledge is acquired unevenly and they cannot all be realised at once. Similar concepts underlie the application of the new knowledge concerning the Charcot-Marie-Tooth syndromes in clinical practice. The aims of this new edition remain unchanged; indeed, we conceive it to be more important than ever to correlate the different categories of information about neuro muscular diseases into an account that allows clinicians to understand their patients' problems, and to plan appropriate investigation and management. Each category of information needs to be integrated into the clinical database. In this edition there has been extensive revision and rewriting to take account of new knowledge. Nonetheless, the basic plan of the book is unchanged. We have added many new ref erences, and have deleted some of the older ones that no longer seem relevant; the references include papers published through the summer of 1996. viii Preface We hope that this book will continue to provide a convenient source of practical and theoretical information that will be useful in managing patients with neuromuscular problems, and that it will stimulate many of our readers to become involved in research, whether in clinical or basic science aspects, in this field of knowledge. London, 1997 Michael Swash Martin S. Schwartz Preface to the Second Edition In the seven years since the first edition of this book was published there have been many important developments in knowledge of neuromuscular diseases. These are reflected in this new edition. We have taken the opportunity to add much new clini cal and scientific material to the book, particularly in relation to metabolic myopathies and neuropathies, and to include more information on genetic aspects of neuromuscular diseases, quantitative electromyographic techniques, plexus and root lesions and cardiomyopathies. The aim of the book remains unchanged, but we have rearranged some of the material so that there are several new chapters. The illustra tions have also been extensively revised and there are many new references. We hope that it will continue to provide a convenient source of practical and theoretical information that will not only be useful in managing patients with neuromuscular diseases, but will stimulate research. London, May 1987 Michael Swash Martin S. Schwartz Preface to the First Edition Neuromuscular diseases are common in clinical practice. Patients with these disorders may be referred to neurologists, rheumatologists, orthopaedic surgeons, paediatricians or to general physicians, and their investigation, utilising electromyo graphy (EMG) and muscle biopsy, often requires the help of the clinical neuro physiologist and of the pathologist. Investigation must be co-ordinated and interpreted in relation to the clinical findings, but it is rare for the clinical neuro physiologist, pathologist and referring physician to confer together in considering diagnosis and management - an attitude which reflects an underlying fragmentation of opinion and of research. This is evident, also, in most textbooks dealing with neuromuscular disorders, which conventionally emphasise either physiological, pathological or clinical aspects of these diseases. As a result of this restricted approach EMG and pathological investigation are often only used to establish a diag nosis, and their potential value in assessing the functional and structural disturb ance in affected muscles remains unrealised. Neuromuscular disorders affect different muscles, or groups of muscles, in varying degrees, and they may progress at different rates in individual patients. Since electrophysiological investigations can be repeated with comparatively little discomfort during the course of a neuromuscular disorder and its treatment, EMG and nerve conduction studies are particularly useful in assessing the distribution and rate of progress of any given disorder. Pathological studies, particularly nerve and muscle biopsy, can be repeated less fre quently, although the advent of needle muscle biopsy may enable this investigation, like EMG, to be repeated in the quadriceps and perhaps in the biceps. Electromyographic and pathological studies can therefore be used not only to indicate the diagnosis itself, but also to assess the overall distribution of the disease process, the effectiveness of compensatory processes and, therefore, the prognosis. Further, in some disorders, for example in polymyositis, myasthenia gravis and certain polyneuropathies, they may be used to assess the effectiveness of treatment. However, they cannot be used as a substitute for careful clinical evaluation. It is the purpose of this book to describe and correlate the clinical, electromyo graphic, pathological and, when relevant, the biochemical features of neuromuscular disorders. Particular attention is paid to variations in these features during phases of progression or improvement. The effects of treatment, and of the various compen satory factors, such as reinnervation by axonal sprouting, muscle fibre regeneration, and myopathic changes in chronic neurogenic disorders, are described since these produce important and clearly recognisable changes in the course of these disorders. The role of EMG and pathological studies in this approach is emphasised since if investigation of patients with neuromuscular problems is planned as a logical pro gression, management becomes more effective. xii Preface Both of us have a particular interest in neuromuscular disorders. In addition to experience in clinical neurology one of us (M.S.) has a special interest in muscle and nerve pathology and the other (M.S.S.) in clinical neurophysiology. In our clinical practice and research we have approached neuromuscular problems jointly so that it has been possible for us to compare the EMG and pathological data. This approach is used in this book to show how the problems of individual patients can be assessed clinically, physiologically and pathologically. This combined approach can provide an overall understanding of the mechanisms of damage and repair of tissues in neuromuscular disorders. London, June 1981 Michael Swash Martin S. Schwartz
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