Neuromuscular Junction Disorders 1st Edition by Andrew Engel 0323958547 9780323958547

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ISBN-10 :  0323958547 

ISBN-13 :  9780323958547

Author: Andrew G. Engel 

Motor System Disorders: Normal Physiology and Function and Neuromuscular Disorders summarizes recent advances and best practice for understanding normal physiology and function of the larger motor system as well as the diagnosis, course, and treatment of neuromuscular disorders. The work will include neuroanatomy, circuits and synapses. It discusses how different parts of the brain contribute to motor control, including both vestibular and cerebellar motor control, as well as the influences of the parietal and frontal lobes. Diagnostic methods include genetic evaluation, electrodiagnosis, pathology, and brain imaging. Neuromuscular disorders of both children and adults will be included.

Neuromuscular Junction Disorders 1st Table of contents:

Section 1: Normal physiology and function
Chapter 1: Skeletal muscle structure, physiology, and function
Abstract
Introduction
Skeletal Muscle Structure
Contractile Mechanisms
Muscle Fiber Types
Calcium Activation of Contraction
Skeletal Muscle Function
Neuromuscular Junction Structure and Development
Neurotransmission
Motor Unit Properties
Motor Unit Recruitment
References
Chapter 2: Upper and lower motor neuron neurophysiology and motor control
Abstract
Introduction
Functional Motor Systems in Brain and Spinal Cord
Evolution of the Motor System
Motor Cortex
Spinal Cord
The Cerebellum
The Lower Motor Neuron System
Conclusion
References
Chapter 3: Vestibular motor control
Abstract
Overview
Vestibular Motor Control: Neuronal Coding in Alert Animals
Nonlinear & Spike Timing Codes: Implications for Motor Control and the Restoration of Function
The Vestibulo-Ocular Reflex
Vestibulospinal Reflex Pathways
The Vestibular Cerebellum: Internal Models of Externally-Applied and Active Self-Motion
Compensation and Extra-Vestibular Sensory Substitution in Central Pathways: Implications for Motor Control
Voluntary Behavior: Steering, Reaching and Navigation
References
Chapter 4: Autonomic failure: Clinicopathologic, physiologic, and genetic aspects
Abstract
Overview
Autonomic Control of Bladder, Bowel and Sexual Function
Neuropathologic Characterization
Neurodegenerative Autonomic Failure
Hereditary Sensory and Autonomic Neuropathies
Autoimmune Autonomic Failure
Future Directions
References
Chapter 5: Gait control by the frontal lobe
Abstract
Introduction
Frontal Lobe Control of Gait
Core Posture Gait Mechanisms in the Brainstem and Spinal Cord
Functional Neuroanatomy of the Cortical Control of Behavior Expression
Possible Cortical Mechanisms of Human Posture–Gait Control
Posture–Gait Control by the Cerebellum, BG, and Emotional Systems
References
Chapter 6: Parietal control of hand movement
Abstract
Introduction
Parallel Visuomotor Processing
Sensorimotor Apraxia
Limb Apraxia
Executive Apraxia
Conclusion
References
Chapter 7: Immunology and microbiome: Implications for motor systems
Abstract
Introduction
Immunology and Motor Systems
The Microbiota-Gut-Brain Axis and Motor Systems
Conclusions
Future Directions
References
Chapter 8: COVID-19 (novel SARS-CoV-2) neurological illness
Abstract
Background
Epidemiology
Susceptibility to Infection
Acute COVID-19 Infection
COVID-19 Diagnostic Testing
Neurological Presentation
Cytokine Storm
Clinicopathological Correlation
Covid Variants
Immunotherapy
Convalescent Plasma
Vaccination
Chronic Covid Illness
Conclusion
References
Section 2: Clinical and laboratory diagnosis
Chapter 9: Neurogenetic motor disorders
Abstract
Introduction
Mitochondrial Genetics
Clinical Clues of a Neurogenetic Motor Disorder
Genetic Neurological Disorders
Genetic Sequencing Strategies
Factors Influencing Phenotypical Gene Expression
Genetic Biomarkers
Defects in RNA Processing
Repeat Expansions Diseases
Genomic Imprinting and Epigenetics
Assignment of a Gene Defect
References
Chapter 10: Neuromuscular electrodiagnosis
Abstract
Introduction
Organization of the Peripheral Neuromuscular System
Pertinent Anatomy and Physiology
The Neuromuscular Junction
Muscle
Nerve Conduction Studies
Special Studies
The Needle EMG Examination
References
Chapter 11: Quantitative electrodiagnosis of the motor unit
Abstract
Introduction
Anatomic Motor Unit
Electrophysiologic Motor Unit
Motor Unit Viewing and Assessment
Electrophysiologic Motor Unit Metrics
Single-Fiber EMG
Normative Data
Motor Unit Number Estimates
MU Metric Changes with Pathology
Statistical Motor Unit and Muscle Characterization
Analysis of Turns and Amplitude
Practical Considerations
Concluding Comments
References
Chapter 12: Neuromuscular pathology
Abstract
Introduction
Muscle Biopsies
Future Direction
Conclusion
References
Chapter 13: Electrophysiological assessment of peripheral and central autonomic disorders
Abstract
Introduction
Historical Background
Anatomy and Physiology
Tests of Autonomic Function
Sudomotor Reflexes
Future Directions
References
Chapter 14: On the path to evidence-based therapy in neuromuscular disorders
Abstract
Introduction
Motor Neuron Disease
Peripheral Neuropathy
Myasthenia Gravis
Muscular Dystrophy
Conclusions
References
Chapter 15: Advances in the neuroimaging of motor disorders
Abstract
Introduction
Neuroimaging Techniques
Neuroimaging of CNS Motor Disorders
Neuroimaging of the Spinal Cord
Neuroimaging of PNS Disorders
Conclusion
References
Chapter 16: Sleep-related motor disorders
Abstract
Introduction
Sleep Motor Control
Nrem Sleep Parasomnias
REM Sleep Parasomnias
Restless leg syndrome
Periodic Limb Movement Disorder
Isolated Motor Phenomena in Sleep
Conclusion
References
Section 3: Neuromuscular disorders
Chapter 17: Neonatal and infantile hypotonia
Abstract
Introduction
Pathophysiology of motor tone
Clinical Inspection
Clues to The Differential Cause of Hypotonia
References
Chapter 18: Autoimmune inflammatory myopathies
Abstract
Introduction
Historical Background
Shared Clinical Features
Specific Clinical Features
Diagnosis and Diagnostic Workup
Muscle Biopsy
Immunopathology
Nonimmune Factors in IBM
Treatment for all AIM except IBM
Step-by-Step Therapeutic Approach
Treatment Trials in Inclusion Body Myositis
Conclusions
Future Directions
References
Chapter 19: Childhood muscular dystrophies
Abstract
Introduction
Classification
General Clinical Approach
General Laboratory Approach
Dystrophin-Glycoprotein Complex
Dystrophin-Associated Muscular Dystrophy
Limb Girdle Muscular Dystrophies
Congenital Muscular Dystrophy
Emery–Dreifuss Muscular Dystrophy
Distal Myopathies
Congenital Myotonic Dystrophy
Conclusions
Future Directions
References
Chapter 20: Distal myopathy
Abstract
Introduction
Alpha-Actinin-2-Related Distal Myopathy (OMIM #618655, Myopathy Distal 6, Adult Onset)
Alpha-B Crystallin-Related Distal Myopathy (OMIM #608810, Myofibrillar Myopathy, Type 2)
Adenylosuccinate Synthase 1-Related Distal Myopathy (OMIM #617030, Myopathy Distal, 5)
Anoctamin 5-Related Distal Myopathy (OMIM #613319, Miyoshi Muscular Dystrophy 3)
Caveolin 3-Related Distal Myopathy (OMIM #614321, Myopathy, Distal, Tateyama Type)
Desmin-Related Distal Myopathy (OMIM #601419, Myofibrillar Myopathy, Type 1)
DNAJB6-Related Distal Myopathy (Distal Calf-Predominant Myopathy)
Dysferlin-Related Distal Myopathy (OMIM #254130, Miyoshi Muscular Dystrophy)
Filamin C-Related Distal Myopathy (OMIM #614065, Myopathy Distal 4)
GNE-Related Distal Myopathy (OMIM #605820, Nonaka Rimmed Vacuolar Distal Myopathy)
HSPB8-Related Distal Neuromyopathy
LIM Domain-Binding Protein 3-Related Distal Myopathy (OMIM #609452, Myopathy Myofibrillar 4)
Matrin-3-Related Distal Myopathy (Vocal Cord and Pharyngeal Distal Myopathy)
Myosin Heavy Chain Beta-Related Distal Myopathy (OMIM #160500, Myopathy Distal 1, Laing Distal Myopathy)
Myotilin-Related Distal Myopathy (OMIM #609200, Myofibrillar Myopathy, Type 3)
Nebulin-Related Distal Myopathy (Distal Nebulin Myopathy)
Perilipin-4–Related Distal Myopathy
Ryanodyne Receptor 1-Related Distal Myopathy (Calf Predominant Distal Myopathy)
Sequestosome 1 and Tia-Related Digenic Distal Myopathy (OMIM #617158, Myopathy, Distal, with Rimmed Vacuoles)
Small Muscle Protein, X-Linked-Related Distal Myopathy (OMIM #301075, Myopathy, Distal, 7, Adult-Onset, X-Linked)
TIA1-Related Distal Myopathy (OMIM #604454, Welander distal myopathy)
Titin-Related Distal Myopathies
Valosin-Containing Protein-Related Distal Myopathy (Adult-Onset Distal Myopathy due to VCP Mutation)
Other Genetic Distal Myopathies
Diagnosis of Distal Myopathy in the Next-Generation Sequencing Era
Management and Treatment
Future Directions
Conclusions
References
Chapter 21: Muscle channelopathies
Abstract
Introduction
Myotonia
Pediatric Syndromes and Variants
Periodic Paralysis
Future Directions
Conclusions
Acknowledgments
References
Chapter 22: Congenital myopathies
Abstract
Introduction
Inspection
Congenital Myopathy Subtypes
Natural History
Approach to Diagnosis
Management of Patients
Mutation-Targeted Pharmacotherapy
Future Considerations
References
Chapter 23: Mitochondrial encephalomyopathy
Abstract
Introduction
Overview of Mitochondrial Genetics
Neurological Manifestations of Mitochondrial Disease
Diagnostic Investigation
Management
Conclusion
References
Chapter 24: Autoimmune polyneuropathies
Abstract
Introduction
Section 1 Acquired Demyelinating Neuropathies
Section 2: Radiculoplexus Neuropathies
Section 3: Motor Neuropathies in the Setting of Rheumatological Disease
Conclusion
References
Chapter 25: Hereditary neuropathy
Abstract
Introduction
CMT1A
CMT1B
CMTX1
CMT2A
(SORD)-Associated CMT
Current Management
Conclusions
References
Chapter 26: Acute/chronic inflammatory polyradiculoneuropathy
Abstract
Introduction
Guillain–Barre Syndrome
CIDP
Conclusion
Future Directions
References
Chapter 27: Myasthenia gravis and congenital myasthenic syndromes
Abstract
Introduction
Myasthenia Gravis
Congenital Myasthenic Syndromes
References
Chapter 28: Adult and childhood vasculitis
Abstract
Nomenclature
Historical Themes
History and Examination
Laboratory Evaluation
Treatment
Conclusions
References
Chapter 29: Critical illness–associated weakness and related motor disorders
Abstract
Introduction1
Background
Nosology
Neuromuscular Assessment
Respiratory Assessment
Critical Illness Motor Disorders Prompting ICU Admission
Critical Illness Weakness That Develops in the ICU

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Tags: Neuromuscular, Junction Disorders, Andrew Engel, normal physiology