Navigating life with Amyotrophic Lateral Sclerosis PDF
Preview Navigating life with Amyotrophic Lateral Sclerosis
i Navigating Life with Amyotrophic Lateral Sclerosis ii Lisa M. Shulman, MD, FAAN Editor- in- Chief, Neurology Now™ Books Series Fellow of the American Academy of Neurology Professor of Neurology The Eugenia Brin Professor in Parkinson’s Disease and Movement Disorders The Rosalyn Newman Distinguished Scholar in Parkinson’s Disease Director, University of Maryland PD & Movement Disorders Center University of Maryland School of Medicine Baltimore, MD Other Titles in the Neurology Now™ Books Series Navigating Life with Parkinson’s Disease Sortirios A. Parashos, MD, PhD; Rose Wichmann, PT; and Todd Melby Navigating Life with a Brain Tumor Lynne P. Taylor, MD, FAAN; Alyx B. Porter Umphrey, MD; and Diane Richard Navigating the Complexities of Stroke Louis R. Caplan, MD, FAAN Navigating Life with Multiple Sclerosis Kathleen Costello, MS, ANP- BC, MSCN; Ben W. Thrower, MD; and Barbara S. Giesser, MD Navigating Life with Epilepsy David C. Spencer, MD, FAAN iii Navigating Life with Amyotrophic Lateral Sclerosis Mark B. Bromberg, MD, PhD, FAAN Department of Neurology University of Utah Salt Lake City, Utah Diane Banks Bromberg, JD Fabian VanCott Salt Lake City, Utah 1 iv 1 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 certain other countries. Published in the United States of America by Oxford University Press 198 Madison Avenue, New York, NY 10016, United States of America. © American Academy of Neurology 2017 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 license, or under terms agreed with the appropriate reproduction rights organization. Inquiries 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. Library of Congress Cataloging-in-Publication Data Names: Bromberg, M. B. (Mark B.), author. | Banks-Bromberg, Diane, author. Title: Navigating life with ALS / by Mark B. Bromberg, MD, FAAN, Department of Neurology, University of Utah, Salt Lake City, UT, Diane Banks-Bromberg, JD, Fabian Vancott, Salt Lake City, UT. Description: New York, NY : American Academy of Neurology/Oxford University Press, [2017] | Includes index. Identifiers: LCCN 2016036224 | ISBN 9780190241629 (alk. paper) Subjects: LCSH: Amyotrophic lateral sclerosis—Popular works. Classification: LCC RC406.A24 B76 2017 | DDC 616.8/39—dc23 LC record available at https://lccn.loc.gov/2016036224 This material is not intended to be, and should not be considered, a substitute for medical or other professional advice. Treatment for the conditions described in this material is highly dependent on the individual circumstances. And, while this material is designed to offer accurate information with respect to the subject matter covered and to be current as of the time it was written, research and knowledge about medical and health issues is constantly evolving and dose schedules for medications are being revised continually, with new side effects recognized and accounted for regularly. 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 regulation. The publisher and the authors make no representations or warranties to readers, express or implied, as to the accuracy or completeness of this material. Without limiting the foregoing, the publisher and the authors make no representations or warranties as to the accuracy or efficacy of the drug dosages mentioned in the material. The authors and the publisher do not accept, and expressly disclaim, any responsibility for any liability, loss or risk that may be claimed or incurred as a consequence of the use and/o r application of any of the contents of this material. 1 3 5 7 9 8 6 4 2 Printed by Sheridan Books, Inc., United States of America v We dedicate this book to Lois F. Hall and her husband, Ray A. Hall, parents of Diane Banks Bromberg. Lois rose to the challenges of ALS and lived her life enthusiastically until her passing. She participated in a drug trial that she hoped would shed light on this disease for the benefit of future patients. Ray unselfishly dedicated himself to helping Lois through her illness in every way possible. vi vii CONTENTS About the AAN’s Neurology Now™ Books Series | xix Lisa M. Shulman, MD, FAAN Foreword | xxiii Preface | xxv Acknowledgments | xxvii 1. Introduction | 1 What Are the Basic Features of ALS? | 1 How It Starts: Patient Stories | 4 How to Use This Book | 10 2. ALS Origins | 13 Why the Name ALS? | 13 Is ALS Different from Motor Neuron Disease? | 13 Is ALS a New or Old Disease? | 14 How Common Is ALS? | 15 Who Was Lou Gehrig? | 15 Who Else Had ALS? | 16 vii viii viii CONTENTS 3. The Diagnosis of ALS | 19 What Does the Neurologist Look for? | 19 What Are the Symptoms and Signs of ALS? | 20 Bulbar Difficulties | 21 Upper Extremity Difficulties | 21 Lower Extremity Difficulties | 22 Progression of Symptoms | 22 What Are the Most Important Tests? | 23 What Are the El Escorial Criteria? | 24 What Are “Rule Out” Tests? | 25 Why Does Making the Diagnosis Take So Much Time? | 26 Do I Really Have ALS? What Diseases Mimic ALS? | 27 Multifocal Motor Neuropathy with Conduction Block | 27 Inclusion Body Myositis | 28 Kennedy Disease | 28 Cervical Spondylitic Myelopathy | 29 Lumbosacral Spondylitic Radiculopathy | 29 Lyme Disease | 30 Carpal Tunnel Syndrome | 30 Ulnar Neuropathy at the Elbow | 31 Should I Get a Second Opinion? | 31 How Was the Diagnosis Given and Received? | 31 4. Causes of ALS | 33 What Causes ALS? | 33 Why Do Neurons Die in ALS? | 34 Glutamate Excitotoxicity | 34 Oxidative Stress | 35 ix Contents ix Mitochondrial Dysfunction | 35 Protein Aggregation | 35 Immune Dysfunction | 36 Gene Mutations | 36 Challenging Facts about ALS | 36 Why Do I Have ALS? | 38 Environmental Factors | 38 Clusters | 38 Military Service | 39 What Is Familial ALS? | 39 How Is Familial ALS Passed On? | 41 Autosomal Dominant Inheritance | 41 Autosomal Recessive Inheritance | 41 X- Linked Inheritance | 42 How Many Genes Are Associated with Familial ALS? | 45 Are There Genes Associated with Frontotemporal Lobe Dementia? | 45 Are Genetic Causes of ALS and Frontotemporal Lobe Dementia Related? | 45 How Do I Know If I Have Familial ALS? | 46 Should I Have Genetic Testing for ALS? | 47 Should Family Members of Individuals with Familial ALS Have Genetic Testing? | 47 5. Motor Progression in ALS | 49 How Does ALS Progress? | 49 How Is Progression Measured? | 50 Muscle Strength | 51 Functional Rating Scale | 51
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