Eva L. Feldman Wolfgang Grisold James W. Russell Wolfgang N. Löscher. Atlas of. Neuromuscular Diseases. A Practical Guideline Second Edition

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2 Atlas of Eva L. Feldman Wolfgang Grisold James W. Russell Wolfgang N. Löscher Neuromuscular Diseases A Practical Guideline Second Edition 123

3 Atlas of Neuromuscular Diseases

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5 Eva L. Feldman Wolfgang Grisold James W. Russell Wolfgang N. Löscher Atlas of Neuromuscular Diseases A Practical Guideline Second Edition

6 Eva L. Feldman A. Alfred Taubman Med. Res. Inst. Ann Arbor, MI USA Wolfgang Grisold Department of Neurology Kaiser-Franz-Josef-Spital Wien Austria Wolfgang N. Löscher Division of Neurology Department of Neurology and Neurosurgery Medical University Innsbruck Innsbruck Tirol Austria James W. Russell Professor, Department of Neurology and Veterans Administration Maryland Healthcare System Neuromuscular Division Head Director-Peripheral Neuropathy Center University of Maryland Baltimore, MD USA ISBN ISBN (ebook) DOI / Springer Heidelberg Dordrecht London New York Library of Congress Control Number: Springer-Verlag Wien 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher's location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (

7 This book is dedicated to Professors P.K. Thomas (London, UK) and John Griffi n (Baltimore, MD, USA), our mentors in neuromuscular diseases and to our families whose help and support made this book possible.

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9 Acknowledgments A book of this type requires many contributors and the authors are grateful for the expert assistance we have received from our colleagues. Some colleagues are acknowledged as co-authors of specific chapters. Mrs. Jeanette Schulz has been responsible for art and cartoons. We would also like to acknowledge Dr. Barbara Mechtler Horvath, a radiologist with a special interest in MRI studies, for her expert input on the use of MRI in the neuromuscular clinic. Dr. Stefan Meng, a radiologist with a background in neuroanatomy, provided valuable clinical input on the utility of ultrasound in the neuromuscular clinic. We appreciate that he assists us in correlating ultrasound imaging with clinical presentation and electrophysiological assessments. We are grateful to the members of the Neuromuscular Divisions of the Kaiser Franz Josef Hospital in Vienna, especially Drs. Peter Hitzenberger, Elisabeth Lindeck Pozza and Vera Wolhgenannt, the Department of Neurology, Innsbruck Medical University, especially Dr. Julia Wanschitz, University of Michigan, especially Drs. Brian Callaghan, Stephen Goutman and Ann Little, the University of Maryland, especially Drs. Justin Kwan, Charlene Hafer-Macko, Neil Porter, and Lindsay Zilliox. Their assistance in expanding our clinical neuromuscular knowledge and sharing their expertise on EMG, neuropathology, genetics and imaging studies have increased the quality of this book. We appreciate Jane Russell for assistance with copyediting the section on Muscle Diseases. Finally, we would like to thank Dr. Mila Blaivas, Dr. Andrea Vass, Ms. Judy Boldt, Ms. Claudia Steffek and Mrs. Lehnhart and Mr. Bachem from Springer for images, expert secretarial assistance and editing. Their assistance in completion of this book is deeply appreciated. vii

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11 Contents 1 Tools New Developments in Neuromuscular Disease The Patient with Neuromuscular Disease History and General Physical Examination Neuromuscular Clinical Phenomenology Motor Function Abnormal Muscle Movements Reflex Testing Muscle Tone Sensory Symptoms Sensory Qualities Myalgia and Pain Neuropathic Pain Autonomic Function Gait, Coordination Clinical Pitfalls NCV/EMG/Autonomic Testing and Miscellaneous Electrophysiology Motor NCV Studies EMG Techniques Laboratory Tests Autoimmune Testing in Neuromuscular Transmission and Muscle Disorders Genetic Testing Neuroimaging Techniques: MR and Ultrasound Imaging of the Spine and Vertebral Column Imaging Muscle Disease Imaging of Peripheral Nerves Tissue Diagnosis: Muscle/Nerve/Skin Biopsy Nerve Biopsy Muscle Biopsy Neuromuscular Approaches to Intervention: Effects of Regional Anesthetic Procedures References Principles of Peripheral Nerve Surgery Defining the Problem Timing of Nerve Repair Restoration of Nerve Continuity End-to-End Coaptation (Direct Nerve Repair) Nerve Grafting ix

12 x Contents 2.4 End-to-Side Coaptation Nerve Transfer Neurolysis References Principles of Nerve and Muscle Rehabilitation Principles Outcome Measurement Rehabilitation Treatment Exercise and Medical Training Occupational Therapy and Splints Orthoses Neural Plasticity Surgery Physical Modalities Treatment Options for Autonomic Symptoms Mononeuropathies Median Neuropathy Ulnar Neuropathy Femoral Neuropathy Peroneal Neuropathy Tibial Neuropathy Plexopathies Polyneuropathies Myopathies References Chronic Pain in Neuromuscular Disease Introduction Clinical Approach and Treatments to Neuropathic Pain Diagnosis Common Patterns of Peripheral Neuropathic Pain Pharmacological Treatments Options Neurosurgical Treatment Options References Cranial Nerve Introduction Olfactory Nerve Optic Nerve Oculomotor Nerve Trochlear Nerve Trigeminal Nerve Abducens Nerve Facial Nerve Acoustic Nerve Vestibular Nerve Glossopharyngeal Nerve Vagus Nerve Accessory Nerve Hypoglossal Nerve Oral Cavity Ventral Part and Closure Middle Part, Oral Cavity and Tongue Posterior Part, Gag and Swallowing

13 Contents xi 5.16 Cranial Nerves and Painful Conditions: A Checklist Cranial Nerve Examination in Coma Pupil Multiple and Combined Oculomotor Nerve Palsies References Radiculopathies Cervical Radicular Symptoms Anatomy Symptoms Signs Pathogenesis Diagnosis Differential Diagnosis Treatment Prognosis Thoracic Radicular Nerves Anatomy Symptoms Signs Pathogenesis Diagnosis Differential Diagnosis Therapy Prognosis Lumbar and Sacral Radiculopathy Anatomy Symptoms Signs Pathogenesis Diagnosis Differential Diagnosis Therapy Prognosis Cauda Equina Anatomy Symptoms Signs Pathogenesis Diagnosis Differential Diagnosis Therapy References Plexopathies Cervical Plexus and Cervical Spinal Nerves Anatomy Clinical Picture Symptoms Pathogenesis Diagnosis Differential Diagnosis Therapy

14 xii Contents 7.2 Brachial Plexus Anatomy Lesions of the Brachial Plexus Symptoms Signs Pathogenesis Diagnosis of Brachial Plexus Lesions Differential Diagnosis Therapy Prognosis Thoracic Outlet Syndromes True Neurogenic TOS Arterial TOS Venous TOS Disputed Neurogenic TOS Others Lumbosacral Plexus Anatomy Symptoms Signs Pathogenesis Diagnosis Differential Diagnosis Therapy Prognosis References Mononeuropathies Introduction Mononeuropathies: Upper Extremities Axillary Nerve Musculocutaneous Nerve Nerves Around the Elbow Median Nerve Ulnar Nerve Radial Nerve Cutaneous Forearm Nerves Digital Nerves of the Hand Truncal Mononeuropathies Phrenic Nerve Dorsal Scapular Nerve Suprascapular Nerve Subscapular Nerve (Inferior Scapular Nerve) Long Thoracic Nerve Thoracodorsal Nerve Innervation of the Shoulder Pectoral Nerve Thoracic Spinal Nerves Intercostal Nerves Intercostobrachial Nerve Around the Breast

15 Contents xiii Abdominal Walls and Their Innervation Iliohypogastric Nerve Ilioinguinal Nerve Genitofemoral Nerve Superior and Inferior Gluteal Nerves Pudendal Nerve Mononeuropathies: Lower Extremities Obturator Nerve Neurology and the Hip Femoral Nerve Saphenous Nerve Lateral Femoral Cutaneous Nerve Posterior Cutaneous Femoral Nerve Sciatic Nerve Around the Knee Peroneal Nerve Tibial Nerve (Posterior Tibial Nerve) Sural Nerve Posterior Tarsal Tunnel Syndrome Anterior Tarsal Tunnel Syndrome Interdigital Neuroma and Neuritis Nerves of the Foot Peripheral Nerve Tumors References Polyneuropathies Introduction Anatomical Distribution Clinical Syndrome Metabolic Diseases Diabetic Distal Symmetric Polyneuropathy Diabetic Autonomic Neuropathy Diabetic Mononeuritis Multiplex and Diabetic Polyradiculopathy (Amyotrophy) Distal Symmetric Polyneuropathy of Renal Disease Systemic Diseases Amyloid Neuropathies Neuropathies Associated with Paraproteinemias Multiple Myeloma Neuropathy Monoclonal Gammopathy of Undetermined Significance (MGUS) Waldenström s Macroglobulinemia Osteosclerotic Myeloma (POEMS Syndrome) Vasculitic Neuropathy, Nonsystemic Vasculitic Neuropathy, Systemic Critical Illness Neuropathy (CIP) Infectious Neuropathies Human Immunodeficiency Virus-1 Neuropathy Herpes Zoster Neuropathy Lyme Disease (Neuroborreliosis) Leprosy