Neuromuscular Disease: A Case-Based Approach

Jessica E. Hoogendijk; Marianne de Visser; Pieter A. van Doorn; Erik H. Niks

doi:10.1017/9781108881593

There are over 800 neuromuscular disorders and this can leave clinicians feeling lost as they try to diagnose and manage patients. On the basis of 66 adult and paediatric neuromuscular case vignettes, readers will be walked through using case histories and clinical manifestations as a starting point for diagnosis. For each case, diagnostic tools, disease pathogenesis, prognosis and treatment options are discussed. Symptoms, signs and syndromes are cross-linked to help the reader navigate the array of disorders. Accompanying tables explain differential diagnoses and 30 videos demonstrate clinical features. This second edition has been thoroughly updated as the neuromuscular subspecialty has developed from clinically and pathologically descriptive to making use of new diagnostic technologies and therapies. Neurologists at all levels, paediatricians, internists, geneticists, rehabilitation physicians, physiotherapists and researchers in the field will find this an invaluable guide, as they seek to familiarise themselves with this complex range of disorders.

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Contents

Neuromuscular Disease: A Case-Based Approach
pp i-ii
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Neuromuscular Disease - Title page
pp iii-iii
A Case-Based Approach
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Copyright page
pp iv-iv
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Contents
pp v-vi
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Contributors
pp vii-viii
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Foreword
pp ix-x
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Preface to 2nd Edition
pp xi-xii
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Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder
pp 1-68
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Chapter 1 - Neuromuscular Diseases: Anterior Horn Cell Disorders, Peripheral Neuropathies, Neuromuscular Junction Disorders, Myopathies
pp 1-4
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Chapter 2 - History Taking and Clinical Examination
pp 5-14
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Chapter 3 - Differential Diagnoses by Presenting or Prominent Clinical Feature
pp 15-34
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Chapter 4 - Electrodiagnostic Studies
pp 35-41
- By Stephan Goedee
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Chapter 5 - Imaging
pp 42-46
- By Stephan Goedee
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Chapter 6 - Muscle and Nerve Pathology
pp 47-51
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Chapter 7 - Genetic Testing
pp 52-56
- By Wouter van Rheenen
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Chapter 8 - Management
pp 57-68
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Part II - Neuromuscular Cases
pp 69-270
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Disorders of the Anterior Horn Cell
pp 71-92
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Case 1 - Amyotrophic Lateral Sclerosis (ALS)
pp 71-76
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Case 2 - Primary Lateral Sclerosis (PLS)
pp 77-78
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Case 3 - Progressive Muscular Atrophy (PMA)
pp 79-81
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Case 4 - Segmental Spinal Muscular Atrophy
pp 82-83
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Case 5 - Spinal and Bulbar Muscular Atrophy (SBMA; Kennedy Disease)
pp 84-84
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Case 6 - Spinal Muscular Atrophy (SMA) Type 1
pp 85-87
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Case 7 - Spinal Muscular Atrophy (SMA) Type 3
pp 88-90
- By Renske Wadman
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Case 8 - Postpolio Syndrome (PPS); Poliomyelitis Anterior Acuta, West Nile Virus Poliomyelitis, Acute Flaccid Weakness in Children
pp 91-92
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Peripheral Neuropathies
pp 93-155
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Case 9 - Guillain–Barré Syndrome (GBS) and Miller–Fisher Syndrome (MFS)
pp 94-96
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Case 10 - Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
pp 97-98
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Case 11 - IgM Anti-MAG Polyneuropathy
pp 99-103
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A Case-Based Approach

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