Neuromuscular Disorders

Tulio E. Bertorini

Description

Offering an authoritative, multidisciplinary approach to the complex issues associated with neuromuscular disease, Neuromuscular Disorders, 2nd Edition, provides the latest tools and strategies for minimizing disability and maximizing quality of life. Dr. Tulio Bertorini, an expert in clinical neuromuscular care, and a team of world-renowned contributors cover all management and therapeutic considerations regarding the full range of neuromuscular disorders and resulting complications.

• Provides comprehensive coverage of evaluation and diagnosis, treatments, and outcomes, including the latest management tools and targeted therapeutic strategies.

• Includes the latest updates in the field: genetic causes of hereditary disease, new autoimmune diseases, promising new therapies such as antisense oligonucleotides and gene therapies, and more.

• Features numerous drug tables, treatment algorithms, and clinical images throughout to aid in diagnosis and treatment.

Sujets

• Medical
• Médecine
• Neurology

Informations

• Publié par: Elsevier
• Date de parution: 29 juin 2021
• Nombre de lectures: 0
• EAN13: 9780323720939
• Langue: English
• Poids de l'ouvrage: 87 Mo

Extrait

Neuromuscular Disorders
Treatment and Management
Second Edition

Tulio E. Bertorini, MD
Professor of Neurology and Pathology, and Director of the Clinical Neurophysiology Fellowship, University of Tennessee, Center for the Health Sciences, Director of EMG Laboratory Methodist, University Hospital, Director of Wesley Neurology Clinic and The Muscular Dystrophy and ALS Clinics, Memphis, Tennessee
Table of Contents
Cover image
Title page
Copyright
Dedication
Preface
Acknowledgments
Contributors
Part 1. General Principles in the Treatment and Management of Neuromuscular Disorders
1. Introduction: Evaluation of Patients with Neuromuscular Disorders
Medical History and Symptoms
Physical Examination
Diagnostic Tests
Electrophysiologic Tests
Histologic Tests
Imaging Studies
Genetic Testing
2. Respiratory Complications in Neuromuscular Disorders
Management of Neuromuscular Diseases Resulting In Respiratory Insufficiency
Management of Neuromuscular Diseases Resulting In Acute Hypercarbic Respiratory Failure
Acute Exacerbations of Chronic Neuromuscular Respiratory Failure
3. Cardiac Complications of Neuromuscular Disorders
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Carriers of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
X-Linked Dilated Cardiomyopathy
Limb-Girdle Muscular Dystrophy
Myotonic Dystrophy
Emery-Dreifuss Muscular Dystrophy
Facioscapulohumeral Dystrophy
Other Neuromuscular Disorders
Diagnosis and Evaluation
Pathology
Treatment
Preoperative Assessment
Respiratory Therapy
Genetic-Based Therapies
Monitoring
Summary
Conclusion
4. Gastrointestinal Complications of Neuromuscular Disorders
Introduction
Pharynx and Esophagus
Stomach and Duodenum
Small Intestine
Large Intestine and Anal Sphincter Constipation
Incontinence
Liver and the Hepatobiliary System
Peripheral Neuropathy and the Gastrointestinal System
Conclusions
5. Autonomic Dysfunction in Neuromuscular Disorders
Overview of the Autonomic Nervous System
Evaluation of the Autonomic Nervous System
Types of Autonomic Neuropathy
Autonomic Disorders—Other
Symptomatic Treatment of Autonomic Disorders
6. A Practical Approach to the Treatment of Painful Polyneuropathies
Definitions and Overview
Nerve Anatomy
Overview of Peripheral Neuropathic Pain Pathophysiology
Modification of Sensory and Nociceptive Afferents
Evidence-Based Medicine
Approved and “Off-Label” Medication Uses
Previous Treatment Recommendations
General Approach to the Patient with Painful Neuropathy
“First-Line” Neuropathic Pain Treatments
“Second-Line” Neuropathic Pain Treatments
Ancillary Treatments
Conclusion
7. Principles and Guidelines of Immunotherapy in Neuromuscular Disorders
Basics of the Immune Response
Autoimmunity
Immunotherapy
Evidence-Based Medicine and Treatment of Autoimmune Neuromuscular Disorders
8. Rehabilitation in Neuromuscular Disorders
Management of Muscle Weakness
Orthoses and Mobility Aids
Lower Extremity
Assistive Devices for Activities of Daily Living
Environmental Evaluations and Modifications
Orthopedic Considerations
Respiratory Failure
Dysarthria
Dysphagia
Pain
Mood Disorders
Cognitive Dysfunction
Quality of Life
Roles of the Caregiver and Family
Palliative Care and Hospice
9. Orthopedic Surgery in Neuromuscular Disorders
Muscular Dystrophy
Hereditary Motor and Sensory Neuropathies
10. Perioperative Management of Patients With Neuromuscular Disorders
Introduction
Characteristics of Physiologic Abnormalities
Preoperative Management
Intraoperative Management
Postoperative Management
Perioperative Management in Specific Neuromuscular Disorders
Malignant Hyperthermia Syndrome
Complications of Major Surgery and Organ Transplantation
Neuromuscular Disorders Acquired in the Intensive Care Unit
11. Molecular and Genetic Therapies
Prevalence of Hereditary NMD
Overview of Genetics
Genetic Testing In NMDs
Genetic Approaches to Treatment of Neuromuscular Disorders
Part 2. Treatment and Management of Specific Neuromuscular Disorders
12. Treatment and Management of Adult Motor Neuron Diseases
Diagnosis And Evaluation
Treatment And Management
13. Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies
Introduction
Diagnosis and Evaluation
Treatment and Management
Current Therapies
Conclusion
14. Treatment and Management of Hereditary Neuropathies
Overview of Inherited Neuropathies
Nonsyndromic Inherited Neuropathies
Syndromic Inherited Neuropathies
Conclusions
15. Treatment and Management of Autoimmune Neuropathies
Introduction
Acute Autoimmune Peripheral Neuropathies
Guillain-Barré Syndrome Subtypes
Chronic Autoimmune Peripheral Neuropathies
16. Treatment and Management of Infectious, Granulomatous, and Toxic Neuromuscular Disorders
Infections of Nerve and Muscle
Granulomatous Diseases of Nerve and Muscle
Toxic Neuropathies and Myopathies
17. Treatment and Management of Segmental Neuromuscular Disorders
Radiculopathy
Plexopathies
Focal Neuropathies
Focal Neuropathy Syndromes
18. Treatment and Management of Disorders of Neuromuscular Hyperexcitability and Periodic Paralysis
Disorders of Neuromuscular Hyperexcitability
Central Disorders
Disorders of Peripheral Nerve Hyperexcitability
Primary Disorders of Muscle
Brody Disease
Metabolic Myopathies
19. Treatment and Management of Disorders of the Neuromuscular Junction
Myasthenia Gravis
Lambert-Eaton Myasthenic Syndrome
Botulism
Congenital Myasthenic Syndrome
Snakebite Myasthenic Syndrome
Organophosphate Intoxication
Hypermagnesemia-Induced Paralysis
20. Treatment and Management of Muscular Dystrophies
Dystrophinopathies
Limb-Girdle Muscular Dystrophies
Emery-Dreifuss Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy
Oculopharyngeal Muscular Dystrophy
Congenital Muscular Dystrophy
21. Neuromuscular Manifestations of Acquired Metabolic, Endocrine, and Nutritional Disorders
Endocrine Disorders
Neuromuscular Complications of Uremia
Malnutrition and Vitamin Deficiencies
22. Treatment and Management of Autoimmune Myopathies
Dermatomyositis
Polymyositis
Necrotizing Autoimmune Myositis (Also Referred to as Immune-Mediated Necrotizing Myopathy)
Antisynthetase Syndrome” or “Overlap Myositis” or “Anti-Jo-1 Syndrome”
Inclusion Body Myositis
Eosinophilic Syndromes and Fasciitis
Diagnosis and Evaluation
Presence of Autoantibodies
Treatment and Management of Inflammatory Myopathies
23. Treatment and Management of Hereditary Metabolic Myopathies
Muscle Disorders of Glycogen Metabolism
Muscle Disorders of Lipid Metabolism
Mitochondrial Myopathies
Rhabdomyolysis
Conclusion
Index
Copyright
Elsevier
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NEUROMUSCULAR DISORDERS, TREATMENT AND MANAGEMENT, SECOND EDITION   ISBN: 9780323713177
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Cover image
Top: IBM - Rimmed vacuoles (left) and a ragged red fiber (right) seen in Inclusion Body Myositis stained with Gomri’s Modified Trichrome (200x)
Bottom: Inflammatory - Inflammatory cells stained with hematoxylin and eosin (100x)

Notices
Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds or experiments described herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made. To the fullest extent of the law, no responsibility is assumed by Elsevier, authors, editors or contributors for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein.
ISBN: 9780323713177
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Dedication
To my wife, Emma, for her patience, support, and encouragement; my children, Tulio J. Paola and Francisco; my grandchildren, Nicolas, Rafael, and Gabriela; and the memory of my parents, Nico and Queta.
To the Peruvian American Medical Society (PAMS) for their dedication to the care of the indigent and improving medical education in Peru.
To the Ernesto Guevara class of the San Fernando Medical School in Lima on the golden anniversary of their graduation.
To my patients.
To all that died in the front lines fighting the COVID-19 pandemic.
Preface
There have been great advances in the diagnosis and evaluation of patients with segmental and generalized neuromuscular disorders since the first edition of this book. Tests applied to different types of the disorders are discussed in the introduction as well as specific chapters.
The management of these diseases have also improved significantly, particularly in cardiac and pulm