Neuromuscular Disorders E-Book

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Serie: NIP- Neurology in Practice
• Sprache: Englisch

Seitenzahl: 542

Veröffentlichungsjahr: 2011

Beschreibung

A new addition to the Neurology in Practice series, Neuromuscular Disorders provides a clinical guide to the challenging diagnosis and management of neuromuscular disorders. As a part of the series, various feature boxes are highlighted throughout. "Tips and Tricks" give suggestions on how to improve outcomes through practical technique or patient questioning. In addition, "Caution" warning boxes supply helpful advice on how to avoid problems and 'Science Revisited' boxes offer quick reminders of the basic science principles necessary for understanding the presented concepts.

Leseprobe

Table of Contents

Cover

Title page

Copyright page

Contributor List

Acknowledgment

Series Foreword

Preface

1 Neuromuscular Diseases: Approach to Clinical Diagnosis

History taking: generating hypotheses

Examination: testing your hypotheses

Localization: defines your differential and investigations

Investigations: selection based on pre-test probability

Diagnosis: putting the story together

Part I: Myopathies

2 Approach to Diseases of Muscle

Clinical history and examination

Diagnostic tests

3 Inflammatory Myopathies

Classification and pathogenesis

Clinical evaluation

Treatment

4 Toxic Myopathies

Lipid-lowering medications

Amphiphilic drugs

Antimicrotubular drugs

Antimitochondrial drugs

Drug-induced myositis

Miscellaneous drugs

5 Metabolic Myopathies

Utilization of bioenergetic substrates in exercise

Clinical syndrome of myoglobinuria and mechanisms

Glycolytic/glycogenolytic disorders

Fatty acid oxidation disorders

Mitochondrial disorders

Approach to investigation of recurrent myoglobinuria

6 Mitochondrial Myopathies

General clinical features

Progressive external ophthalmoplegia

Kearns–Sayre syndrome

PEO-plus

Mitochondrial neurogastrointestinal encephalomyopathy

Exercise intolerance due to mtDNA mutations

Coenzyme Q10 deficiencies

Mitochondrial DNA depletion syndrome

Infantile myopathies with COX deficiency

Acknowledgments

7 Dystrophinopathies

Epidemiology

Clinical presentations

Differential diagnosis of dystrophinopathy

Conclusions

8 Limb–Girdle Dystrophies

Diagnostic approach

Clinical approach

Investigations

Management

Conclusions

9 Facioscapulohumeral Dystrophy

Clinical presentation

Prognosis

Genetics

Clinical diagnosis

Management

10 Myotonic Dystrophies

Epidemiology

Genetics

Clinical features

Diagnostic evaluation

Management

11 Oculopharyngeal Muscular Dystrophy

Clinical features

Epidemiology

Diagnosis

Differential diagnosis

Treatment

Future perspectives

12 Distal Myopathies

Diagnostic workup

Clinical features

Causes and pathomechanisms of distal myopathy

Management

13 Muscle Channelopathies

Presentations and diagnostic tests

The nondystrophic myotonias

The periodic paralyses

14 Congenital Myopathies

An overview of diagnosis and management of the congenital myopathies

The diagnostic approach

Common approaches to management

The different types of congenital myopathy

Future perspectives

Acknowledgments

Part II: Disorders of the Neuromuscular Junction

15 Approach to Diseases of the Neuromuscular Junction

The clinical presentation of MG

Examination of the patient with suspected MG

The clinical presentation of LES

16 Myasthenia Gravis

Epidemiology

Clinical presentation

Pathophysiology

Diagnosis

Treatment

Special circumstances

Prognosis

17 Botulism

Pathogenesis of botulism

Clinical features of botulism

Differential diagnosis

Diagnosis of botulism

Treatment of botulism

Conclusion

18 Lambert–Eaton Myasthenic Syndrome

Pathophysiology

Clinical features

Epidemiology

Diagnosis

Other investigations

Differential diagnosis

Management

Prognosis

19 Congenital Myasthenic Syndromes

Definitions and basic principles

Phenotypic features and pathological mechanisms in the different CMSs

Diagnosis of the CMSS

Treatment of CMSs

Acknowledgment

Part III: Disorders of Peripheral Nerve

20 Approach to Diagnosis of Peripheral Nerve Disease

Anatomy

Ancillary testing

21 Hereditary Motor Sensory Neuropathies (Charcot–Marie–Tooth Disease)

Charcot–Marie–Tooth disease: signs and symptoms

Classification of CMT and HNPP

Specific CMT neuropathies and HNPP

Strategy for definitive diagnosis of CMT

Differential diagnosis of CMT

Management of CMT disease and HNPP

22 Diabetic Neuropathies

Clinical features

Diagnostic approaches

Mechanisms

Therapy

23 Toxic and Metabolic Neuropathies

Toxic neuropathies

Metabolic neuropathies

Conclusions

24 Acute Inflammatory Demyelinating Neuropathies and Variants

Clinical features

GBS variants

Immunopathology

Antecedent events

Electrophysiological features

Laboratory features

Treatment

Prognosis

25 Chronic Immune-mediated Demyelinating Polyneuropathies

Chronic immune-mediated demyelinating polyneuropathies

Typical and atypical CIDP

Diagnosis and treatment approaches

Conclusion

26 Vasculitic Neuropathies

Presentation

Diagnosis

Treatment

27 Paraneoplastic Neuropathies

Paraneoplastic neuropathies

28 Brachial and Lumbosacral Plexopathies

Brachial plexopathy

Trauma

Acute brachial plexus neuropathy

Thoracic outlet syndrome

Cancer

Lumbosacral plexopathy

Part IV: Disorders of Motor Neurons

29 Approach to Diseases of the Motor Neurons

Clinical history

Physical examination

Investigations

UMN-predominant disorders

LMN-predominant disorders

Mixed UMN and LMN disorders

Final comments

30 Spinal Muscular Atrophy

SMA pathogenesis and clinical features

Management of SMA

Energy conservation

Conclusion

31 Amyotrophic Lateral Sclerosis

Epidemiology

Clinical presentations

Variants of ALS

Pathomechanisms

Diagnosis of ALS

Treatment and management

32 Neuromuscular Disorders in the Intensive Care Unit

Introduction to the role of the ICU in neuromuscular disease

ICU management of specific acute neuromuscular diseases

ICU management of complications in chronic neuromuscular disease

ICU-acquired weakness and critical illness neuromyopathy

Index

Color Plates

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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

Contributor List

W. David Arnold, Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Medical Center, Columbus, OH, USA

Steven K. Baker, Department of Medicine, Physical Medicine and Neurology, Neuromuscular Disease Clinic, McMaster University Medical Center, McMaster University, Hamilton, Ontario, Canada

Nikhil Balakrishnan, Wake Forest University Baptist Medical Center, Winston Salem, NC, USA

Richard J. Barohn, Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA

James Burge, MRC Centre for Neuromuscular Diseases, and National Hospital for Neurology and Neurosurgery, UCLH FT, London, UK

Kate Bushby, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK

Jean-Pierre Bouchard, Department of Neurological Sciences, Université Laval, CHA Hôpital Enfant-Jésus, Québec, Canada

Kristine Chapman, Division of Neurology, University of British Columbia, Vancouver, British Columbia, BC, Canada

Amy Chen, Department of Neurology, University of Rochester, Rochester, NY, USA

Emma Ciafaloni, Department of Neurology, University of Rochester, Rochester, NY, USA

Nigel Clarke, Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney Medical School, University of Sydney, Sydney, NSW, Australia

James C. Cleland, Auckland City Hospital and University of Auckland School of Medicine, Auckland, New Zealand

Maxwell S. Damian, Cambridge University Hospitals Department of Neurology, Addenbrooke’s Hospital Neurosciences Critical Care Unit, Cambridge, UK

Mazen M. Dimachkie, Neuromuscular Section, Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA

Annie Dionne, Department of Neurological Sciences, Université Laval, CHA Hôpital Enfant-Jésus, Québec, Canada

Valentina Emmanuele, Department of Neurology, Columbia University Medical Center, New York, NY, USA

Andrew G. Engel, Department of Neurology, Mayo Clinic, Rochester, MN, USA

Constantine Farmakidis, Columbia University Medical Center, Neurological Institute, New York, NY, USA

Steven A. Greenberg, Department of Neurology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA

Michela Guglieri, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK

Michael G. Hanna, MRC Centre for Neuromuscular Diseases, and National Hospital for Neurology and Neurosurgery, UCLH FT, London, UK

Chad R. Heatwole, Department of Neurology, University of Rochester Medical Center, NY, USA

Michael K. Hehir, Department of Neurology, University of Rochester, Rochester, NY, USA

David N. Herrmann, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA

David Hilton-Jones, Department of Clinical Neurology, University of Oxford, and John Radcliffe Infirmary, Oxford, UK

Agnes Jani-Acsadi, Department of Neurology, Wayne State University, School of Medicine, Detroit, MI, USA

Nicholas Johnson, Department of Neurology, University of Rochester Medical Center, NY, USA

Petra Kaufmann, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, Bethesda, MD, USA

Kurt Kimpinski, Department of Clinical Neurological Sciences, University Hospital and London Health Sciences Centre, University of Western Ontario, London, ON, Canada

John T. Kissel, Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Medical Center, Columbus, OH, USA

Richard A. Lewis, Department of Neurology, Wayne State University, School of Medicine, Detroit, MI, USA

Eric L. Logigian, University of Rochester Medical Center, Rochester, NY, USA

Matthew N. Meriggioli, Division of Neuromuscular Medicine, University of Illinois College of Medicine, Chicago, IL, USA

Hiroshi Mitsumoto, Eleanor and Lou Gehrig’s MDA/ALS Research Center, Columbia University, New York, NY, USA

Jacqueline Montes, SMA Clinical Research Center, Department of Neurology, Columbia University, New York, NY, USA

Michael W. Nicolle, Department of Clinical Neurological Sciences, University of Western Ontario, and Myasthenia Gravis Clinic, University Hospital, London, ON, Canada

Kathryn North, Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney Medical School, University of Sydney, Sydney, NSW, Australia

Araya Puwanant, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA

Catarina M. Quinzii, Department of Neurology, Columbia University Medical Center, New York, NY, USA

Donald B. Sanders, Duke University Medical Center, Durham, NC, USA

Amanda Sherwin, Vancouver Hospital, Vancouver, British Columbia, BC Canada

Christen Shoesmith, London Health Sciences Centre Motor Neuron Diseases Clinic, and University of Western Ontario, London, Ontario, Canada

Rabi Tawil, Neuromuscular Disease Unit, Fields Center for FSHD and Neuromuscular Research, University of Rochester Medical Center, Rochester, NY, USA

Ingrid Tein, Neurometabolic Clinic and Research Laboratory, Department of Pediatrics, Division of Neurology, and Genetics and Genome Biology Program, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

Pariwat Thaisetthawatkul, Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA

Bjarne Udd, Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere; Folkhalsan Institute of Genetics, University of Helsinki, Helsinki; and Department of Neurology, Vasa Central Hospital, Vasa, Finland

Shannon L. Venance, Department of Clinical Neurological Sciences, University of Western Ontario, London, Canada

Matthew P. Wicklund, Department of Neurology, Penn State College of Medicine, Hershey, PA, USA

Douglas W. Zochodne, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada

Acknowledgment

We wish to thank Karen Richards for her exceptional organizational skills and her tireless effort in keeping us, as well as all the authors, on task and on time.

Series Foreword

The genesis for this book series started with the proposition that, increasingly, physicians want direct, useful information to help them in clinical care. Textbooks, while comprehensive, are useful primarily as detailed reference works but pose challenges for uses at point of care. By contrast, more outline-type references often leave out the “how’s and whys” – pathophysiology, pharmacology – that form the basis of management decisions. Our goal for this series is to present books, covering most areas of neurology, that provide enough background information for the reader to feel comfortable, but not so much to be overwhelming; and to combine that with practical advice from experts about care, combining the growing evidence base with best practices.

Our series will encompass various aspects of neurology, the topics and specific content chosen to be accessible and useful. Neuromuscular Disorders by R. Tawil and S. Vance, covers the commonly seen areas of acquired and inherited conditions of muscle, nerve, and the neuromuscular junction, which we hope will appeal to students, trainees, experts and practicing neurologists alike. The editors are expert in their field and have recruited superb contributors to share their views on best treatment and management options.

Chapters cover critical information that will inform the reader of the disease processes and mechanisms as a prelude to treatment planning. Algorithms and guidelines are presented, when appropriate. “Tips and Tricks” boxes provide expert suggestions. Other boxes present cautions and warnings to avoid pitfalls. Finally, we provide “Science Revisited” sections that review the most important and relevant science background material. Bibliographies guide the reader to additional material.

We welcome feedback. As additional volumes are added to the series, we hope to refine the content and format so that our readers will be best served.

Our thanks, appreciation and respect goes out to our editors and their contributors, who conceived and refined the content for each volume, assuring a high quality, practical approach to neurological conditions and their treatment.

And our thanks also go to our mentors and students (past, present, and future), who have challenged and delighted us; and to our book editors and their contributors, who were willing to take on additional work for an educational goal; and to our publisher, Martin Sugden, for his ideas and support, for wonderful discussions, and for commiseration over baseball and soccer teams that might not quite have lived up to expectations.

We would like to dedicate the series to Marsha, Jake and Dan; and to Janet, Laura and David.

And to Steven R. Schwid, MD, our friend and colleague, whose ideas helped shape this project and whose humor brightened our lives; but who could not complete this goal with us.

Robert A. Gross

Jonathan W. Mink

Rochester, July 2011

Preface

Neuromuscular diseases include acquired and inherited conditions of muscle, nerve, and the neuromuscular junction. As neuromuscular clinicians, we recognize that having a familiarity with and an approach to these disorders is important for all physicians for several reasons. First, many of the acquired neuromuscular disorders are eminently treatable and some can present as emergencies. Consequently, early recognition of these disorders is important. Second, and equally important, modern medical management has significantly improved the quality of life of many individuals living with inherited neuromuscular disorders. Therefore, most inherited neuromuscular disorders are now considered chronic illnesses and early recognition of complications specific for certain neuromuscular conditions may lead to lifesaving interventions. Finally, the manifestations of neuromuscular diseases span several medical specialties including cardiology, pulmonology, and gastroenterology, and an integrated, multidisciplinary approach to the management of these patients has become a standard of care.

The challenge in writing this introductory textbook is to provide accessible, useful information about an ever more complex field of study. Our understanding of the inherited neuromuscular disorders has grown exponentially since the discovery in 1987 of the Duchenne gene. This explosion of molecular information has both simplified the diagnosis and management of certain neuromuscular disorders and complicated that of others. From a clinically based classification of a handful of diseases, we now have dozens of neuromuscular diseases defined by specific gene defects. Molecular genetics has allowed exact clinical definition for some entities, while blurring the clinical boundaries of others as mutations in different genes sometimes result in clinically indistinguishable conditions. Comp­licating matters is the realization that identical clinical presentations may be seen with acquired and hereditary disorders.

Despite the increasing complexity of molecular classifications, the diagnosis of neuromuscular disorders remains a singularly clinical exercise. Ancillary testing, short of DNA testing, helps to narrow the differential but rarely results in specific diagnoses. Moreover, genetic testing is not always available to practitioners and, therefore, an accurate history and careful exam remain critical in providing the most useful clues to direct the diagnostic workup. Even where DNA testing is widely available, the history and exam are essential in determining the most efficient and cost-effective use of DNA diagnostics. In many instances today, DNA testing will be the first test ordered to confirm the clinical suspicion, sparing the patient other unnecessary diagnostic tests.

This textbook is meant as an introductory volume for trainees and generalists alike, providing a practical framework to approach patients presenting with problems that localize to the neuromuscular system. Four chapters describe the clinical approach to the major neuromuscular disease categories including diseases of the motor neuron, nerve, neuromuscular junction, and muscle. The textbook covers the spectrum of neuromuscular disorders from the common to the esoteric. Each chapter contains text boxes highlighting relevant information regarding the diagnosis and management of individual disorders. The short bibliography at the end of every chapter provides relevant references for those interested in a more in-depth understanding of specific disorders.

We hope that the authors’ tips and tricks and cautions prove to be valuable in clinical practice. With the increasing complexity of the neuromuscular field, making a specific diagnosis may not be achievable in some cases except in specialized academic centers. More relevant, however, is that better understanding of the neuromuscular disorders and their associated complications, result in improved patient care.

Rabi N. Tawil, MD

Rochester

Shannon Venance, MD, PhD

London, Ontario

1

Neuromuscular Diseases: Approach to Clinical Diagnosis

Shannon Venance1 and Rabi Tawil2

1Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada

2University of Rochester Medical Center, Neuromuscular Disease Unit, Rochester, NY, USA

Effective clinical diagnosis of neuromuscular disorders requires the thoughtful use of the physician’s core clinical skills of history taking and examination. Hypotheses are generated based on the clinical presentation and history taking, and tested during the physical examination. Unique to neurosciences is the need for accurate localization within the nervous system, before arriving at the differential diagnosis and identifying the investigations needed to confirm the clinical diagnosis. Only then is confirmation of a clinical diagnosis possible. Once the determination is made that the history and exam are consistent with a disorder of the peripheral nervous system, the clinician has to decide if the presentation is a disorder of peripheral nerve, muscle, neuromuscular junction, or motor neuron. Complicating matters are neuromuscular disorders, such as amyotrophic lateral sclerosis (ALS) in which peripheral and central nervous system (CNS) signs and symptoms coexist. As a general rule, investigations are tailored to reflect the clinical reasoning process and the most likely diagnostic considerations. A diagnosis is important for different reasons in different circumstances and individuals. An accurate diagnosis directs treatment and management, permits a discussion of disease progression, potential complications, and, in certain cases, is required for peace of mind. The approach taken throughout this volume emphasizes a careful history and examination with an insightful approach to the use of newer imaging and molecular diagnostic techniques in arriving at a diagnosis.