This comprehensive book addresses the acute emergencies in neuromuscular disease from a novel perspective, focusing on clinical management and treatment of these disorders rather than the more traditional neuropathology, neurogenetics, and neurophysiology approaches. The book fills the gap in guidelines by providing an evidence-based guidance for the clinical adult or pediatric neurologist confronted by an acutely ill patient in a potentially life-threatening situation.
The book is structured according to pathophysiological principles, but each chapter is strictly organised around case vignettes that emphasize clinical relevance allowing the non-specialist to access complex scientific backgrounds. The electronic supplementary material and multimedia are provided as an integral tool to facilitate accessibility and understanding of a notoriously difficult field of neurology. Finally, the role of patients, who are increasingly involved in many management decisions, is highlighted in a chapter on ethical issues discussing withholding or withdrawing life-sustaining therapy, patient end-of-life values, wishes and preferences, and on advanced directives.
The publication is aimed equally at the non-specialist neurologist in frontline clinical practice confronted by a rare disorder needing immediate management decisions, at the clinical specialist referring for guidance in specific management aspects, and at the specialist researcher keen to maintain clinic relevance.
Author(s): Maxwell Damian, Marianne de Visser
Publisher: Springer
Year: 2022
Language: English
Pages: 459
City: Cham
Foreword
Preface
Contents
Contributors
Chapter 1: Recognition and Assessment of the Neuromuscular Emergency
Introduction
Presentation in the Emergency Department
History-Taking
Neurological Examination
Risk Assessment
Examination of Cardiac, Autonomic, and Respiratory Function and Skin Inspection
Conclusion
Self Assessment Questions
References
Chapter 2: Diagnostic Tests in the Acute Setting: Strengths and Limitations
Introduction: Known and Unknown Unknowns
Laboratory Values
Electrolytes (Sodium, Potassium, Calcium, Magnesium)
Serum Creatine Kinase Activity
Troponins
Thyroid-Stimulating Hormone (TSH)
C-Reactive Protein (CRP)
“Liver Function Tests’: Alanine Aminotransferase (ALT), Aspartate Aminotransferase (AST), and γ-Glutamyl Transferase (γGT)
Creatinine
Erythrocyte Sedimentation Rate (ESR)
Blood Count
Blood Gas Analysis
Lactate
CSF
Myoglobin
Immunofixation
Virology
Porphyria Screening
Toxicology Screening
Autoantibodies
Soluble Interleukin-2 Receptor
Ferritin
Molecular Genetics
Electrodiagnostic Studies
Introduction
Indications
Caveats
Brief Summary of Electrodiagnostic Techniques
Additional Studies Used in a Critical Care Setting
Phrenic Motor Study
Diaphragmatic EMG
Direct Muscle Stimulation (DMS)
Patterns of Abnormalities Encountered in Neuromuscular Disorders in the Critical Care Unit
Practical Aspects of Performing Electrodiagnostic Studies in the Intensive Care Setting
Limitations and Statistical Considerations
Spirometry
Imaging
Imaging in the Detection of Acute Muscle Damage, That Is, Oedema
Imaging for the Detection (and Possibly Classification) of Acute Peripheral Nerve Damage
Imaging of the Diaphragm
Imaging of the CNS
Spinal Imaging
Brain Imaging
Stroke-Like Episodes
White Matter Abnormalities
Cardiac Imaging
Histology/Cytology
Muscle Biopsy
Nerve Biopsy
Blood Film Examination
Self Assessment Questions
References
Chapter 3: Respiratory Management in Acute Neuromuscular Disease
Introduction
Central Components of Mechanical Respiratory Failure
Peripheral Component of Mechanical Respiratory Failure
Measurable Pathophysiology in Mechanical Respiratory Failure
Clinical Recognition of Acute Respiratory Failure
Causes of Acute Mechanical Respiratory Failure
Neurophysiological and Dynamic Testing
ICU Level of Care
Tracheostomy
Liberating the Patient from Mechanical Ventilation
Summary
Self Assessment Questions
References
Chapter 4: Management of Respiratory Emergencies in Chronic Neuromuscular Disease
Introduction
Respiratory Muscle Weakness Due to Neuromuscular Disease
Insufficient Ventilation
Bulbar Dysfunction
Ineffective Cough
Evaluation
Respiratory Muscle Weakness
Diaphragmatic Function
Cough Assessment
Symptoms and Signs of Respiratory Failure
Management of Acute Respiratory Failure
Mechanical Ventilation
Interfaces
NIPPV: Initial Settings and Practical Aspects
Air Stacking and Mechanical In- and Exsufflation
Conclusion
Self Assessment Questions
References
Chapter 5: Weaning from the Ventilator and Long-Term Respiratory Support
Current Concepts on Long-Term Ventilation of Neuromuscular Patients
Considerations of Respiratory Management in Children
Patterns of Respiratory Muscle Dysfunction and Spinal and Thoracic Complications in Neuromuscular Diseases
Setting Up and Follow-Up of Home Ventilation in an Adult with a Neuromuscular Disease
Initiating Home Ventilation at the Pediatric Age
Weaning an Adult from Ventilation
Weaning a Child with Neuromuscular Disease
Self Assessment Questions
References
Chapter 6: Emergencies in Motor Neuron Diseases
Introduction
Emergencies in Spinal Muscular Atrophy
Diagnosis
Choking
Respiratory Emergency
Metabolic Management During Emergency/Surgical Procedures
Fractures
Emergencies in Amyotrophic Lateral Sclerosis
Respiratory Failure
Choking
Risks of Gastrostomy Tube Placement
Laryngospasm and Stridor
Deep Venous Thrombosis and Pulmonary Embolus
Concluding Remarks
Self Assessment Questions
References
Chapter 7: Emergencies in Peripheral Neuropathies
Introduction
Guillain-Barré Syndrome
Epidemiology
Pathophysiology
Clinical Presentation
Variants of GBS
Diagnosis and Diagnostic Investigations
Differential Diagnosis
Therapeutic Management
Initial Evaluation in the Emergency Department
Management in the Intensive Care Unit
Immunomodulatory Therapy
Prognosis
Other Peripheral Neuropathy Emergencies
Self Assessment Questions
References
Chapter 8: Infectious Diseases of the Peripheral Nerve and Spinal Cord
Introduction
Localisation by Site of Involvement
Cranial Nerves
Spinal Cord
Dorsal Root Ganglion, Nerve Roots and Plexus
Peripheral Nerve
Subgroups that Warrant Special Attention
Children, Pregnant Women and Elderly Populations
Immunosuppression Due to Treatment
Neuromuscular Emergencies in Low-Income Societies
The Returning Traveller
The Non-immunised/Partially Immunised Host
Specific Infections
Viruses
HIV
Corona Virus: Sars-CoV-2 (COVID-19)
Rabies
Bacteria
Borrelia Burgdorferi (Lyme Disease)
Clostridium Botulinum (Botulism)
Corynebacterium Diphtheriae (Diphtheria)
Clostridium Tetani (Tetanus)
Treponema Pallidum (Syphilis)
Mycobacterium Tuberculosis (Tuberculosis)
Helminths
Schistosomiasis
Self Assessment Questions
References
Chapter 9: The Acute and Emergency Management of Neuromuscular Junction Disorders
Introduction: The Physiology of Neuromuscular Junction Transmission
Autoimmune Myasthenia Gravis
Epidemiology and Clinical Presentation
Pathophysiology
Diagnosis of MG
General Principles of Treatment of MG
Assessment of the Acutely Unstable MG Patient
Myasthenic Crisis: Management in the ICU
Elective ICU Admission in Myasthenia Gravis
Myasthenia Related to Immune Checkpoint Inhibitors
Other Neuromuscular Junction Syndromes
Lambert-Eaton Syndrome
Botulism
Nerve Agents
Congenital Myasthenic Syndromes (CMS)
Epidemiology and Classification
Clinical Presentation and Diagnosis
General Principles of Treatment of CMS
Pharmacological Treatment of CMS
Self Assessment Questions
References
Chapter 10: Emergencies in Acute Myopathies: Acute Toxic Myopathies, Rhabdomyolysis, and Malignant Hyperthermia
Rhabdomyolysis and Acute Toxic Myopathies
Introduction and Definition
Epidemiology and Clinical Presentation
Clinical Presentation
Pathophysiology
Diagnosis
Prognosis
General Principles of Rhabdomyolysis Treatment
Malignant Hyperthermia
Introduction and Definition
Epidemiology
Clinical Description
Etiology and Pathophysiology
Diagnosis
Principles of Malignant Hyperthermia (MH) Treatment
Prognosis and Prevention
Self Assessment Questions
References
Chapter 11: Emergencies in Idiopathic Inflammatory Myopathies
Introduction
Idiopathic Inflammatory Myopathies
Epidemiology and Clinical Presentation of Idiopathic Inflammatory Myopathies
Epidemiology
Clinical Presentation and Ancillary Investigations
Muscle Involvement
Skin Abnormalities
Respiratory Failure
Dysphagia
Systemic Symptoms
Cardiac Involvement
Presentation in Children
Pathophysiology
Dermatomyositis
Other Subtypes
Diagnosis and Classification of Idiopathic Inflammatory Myopathies
Diagnostic Tests
Cancer-Related IIM
General Principles of Treatment for Inflammatory Myopathies
Emergencies and their Management
Management of Severe Muscle Weakness
Management of Severe Dysphagia
Management of Interstitial Lung Disease
Management of Cardiac Involvement
Management of Cancer-Associated Myositis (CAM)
Management of Immune Checkpoint Inhibitor-Related Myositis
Management of Severe Cutaneous Lesions
Conclusion
Self Assessment Questions
References
Chapter 12: The Emergency and Intensive Care Management of Metabolic Myopathies
Introduction Epidemiology, Pathophysiology, and Clinical Presentation
Epidemiology and Classification
Disorders of Glycogen and Glucose Metabolism
Disorders of Fatty Acid Metabolism
Pathophysiology
Disorders of Glycogen and Glucose Metabolism
Disorders of Fatty Acid Metabolism
Clinical Presentation
Disorders of Glycogen and Glucose Metabolism
Disorders of Fatty Acid Metabolism
Diagnosis and General Principles of Management
Diagnostic Testing in Glycogenoses
Diagnostic Testing in Disorders of Fatty Acid Metabolism
General Principles of Management
Management of Emergencies in Metabolic Myopathies
Glycogen Storage Disorders
Fatty Acid Oxidation Disorders
Planned Anaesthesia and Ventilation in ICU
Self Assessment Questions
References
Chapter 13: Intensive Care Implications in Primary Mitochondrial Disease
Introduction
Diagnostic Work-Up in Suspected Mitochondrial Disease at the ICU
Genetics of Mitochondrial Disease
General Approach to Critical Illness in Patients with Mitochondrial Disease
Preventing Acute Illness in Mitochondrial Disease
Management of Patients with Mitochondrial Disease in the Critical Care Setting
Severe, Infantile Mitochondrial Disease
Genetic Causes and Pathophysiology
Manifestations
Management
Outcome
Stroke-like Episodes and Epileptic Encephalopathy
Genetic Causes and Pathophysiology
Manifestations
Management
Outcome
Severe Cardiac Complications in Mitochondrial Disease (Cardiomyopathy, Arrhythmia)
Genetic Causes and Pathophysiology
Cardiac Manifestations
Structural Defects
Arrhythmias
Management
Prognosis
Liver Failure in Mitochondrial Disease
Genetic Causes and Pathophysiology
Manifestations
Management
Outcome
Acute Gastrointestinal Manifestations in Mitochondrial Disease
Causes and Manifestations
Management of Acute Pseudo-Obstruction
Safe Use of Medications in Patients with Mitochondrial Disease
Self Assessment Questions
References
Chapter 14: ICU-Related Neuromuscular Weakness and Neuromuscular Differential Diagnoses in the ICU
Introduction
Epidemiology
Pathophysiology and Risk Factors of ICUAW
Clinical Features and Diagnosis
General Principles of Management
Short- and Long-Term Consequences
Conclusive Remarks
Self Assessment Questions
References
Chapter 15: Neuromuscular Emergencies from a Low- and Middle-Income Countries Perspective
Introduction
Guillain-Barré Syndrome in LMICS
Introduction
Diagnosis
Clinical Assessment
Cerebrospinal Fluid (CSF) Examination
Electrophysiological Tests
Treatment
General
Specific
Organophosphate Poisoning
Introduction
Clinical Features
Neuromuscular Emergency
Type I Paralysis
Type II Paralysis
Type III Paralysis
Diagnosis
Management of Non-Neuromuscular Manifestations
General
Antidotes
Atropine
Pralidoxime
Management of Neuromuscular Manifestations
Neuroparalytic Snake Bite
Introduction
Clinical Features
Diagnosis
Treatment
At the Site of a Snake Bite
Rapid Clinical Assessment and Resuscitation at the Hospital
Definitive Treatment
Tetanus
Introduction
Clinical Features
Generalized Tetanus
Neonatal Tetanus
Localized Tetanus
Cephalic Tetanus
Diagnosis
Clinical Assessment
Gram Stain and Culture of the Wound
Spatula Test
Differential Diagnosis
Treatment
General Management
Neutralization of Toxin and Active Immunization
Management of Complications
Conclusion
Self Assessment Questions
References
Chapter 16: Neuromuscular Disorders and Palliative Care in Adults
Introduction
Motor Neurone Disease: A Paradigmatic Disease for Palliative Care
Palliative Care
Hospice Perception
Change in Neuromuscular Disorders
Duchenne Muscular Dystrophy (DMD)
Spinal Muscular Atrophy
Myotonic Dystrophy
Advance Care Planning
Ethics
Opiates
Withdrawal of Treatment
The Oswestry Model
Self Assessment Questions
Appendix 1 Red Flag System for Referral to Palliative Care Service
References
Useful Links
Index
