
Neuromuscular Disorders of Infancy, Childhood, and Adolescence
A Clinician's Approach
Description
Key Features
- Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence.
- Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices.
- Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry
Readership
Clinical Neurologists, Pediatric Neurologists, Neuroscience Researchers, Clinical Research Neurologists
Table of Contents
-
- Dedication
- About the Cover Images
- Foreword
- Preface to the Second Edition
- Preface to the First Edition
- List of Contributors
- Part I: Clinical and Laboratory Approach to the Infant and Child with a Neuromuscular Problem
- Chapter 1. Introduction: Historical Perspectives
- Introduction
- Traditional Diagnostic Tests
- Modern Diagnostic Testing
- Clinical Classification
- Clinical Approach
- Presenting Complaints
- Conclusion
- References
- Chapter 2. Genetics of Neuromuscular Disorders
- Introduction
- Patterns of Genetic Transmission
- Pedigree Analysis and Risk Assessment
- Chromosomes and Chromosomal Abnormalities
- Genetic Imprinting
- Molecular Genetics
- Gene Mutations and Modes of Inheritance
- Developments in Molecular Diagnostics
- Methods of Molecular Genetic Diagnostics
- Comparison Between Panels and Whole Exome Sequencing
- Secondary Findings
- Clinical Indications for Genetic Testing
- Approach to Genetic Evaluation
- Potential Barriers to Testing
- Attitudes Towards Genetic Testing
- Recurrence Risk in Families and Reproductive Options
- Treatment of Genetic Disorders
- References
- Chapter 3. Electromyography in Pediatrics
- Introduction
- Dealing with Misconceptions
- Normative Data
- Techniques
- Investigation Strategies
- Final Words
- References
- Chapter 4. Muscle Biopsy for Diagnosis of Neuromuscular and Metabolic Diseases
- Introduction
- Tissue Selection and Preparation
- Ontogenesis of Striated Muscle
- Cellular Death and Regeneration
- Denervation, Disuse, and Hypotrophy
- Muscle Biopsy in Specific Myopathies
- Myofibrillar Myopathies
- Glycogenoses
- Lipid Storage Myopathies
- Inflammatory Myopathies
- References
- Chapter 5. Nerve Biopsy
- Introduction
- Techniques
- Complications
- Age-Related Differences in Sural Nerve Morphology
- Biopsy Findings in Relevant Diseases
- Conclusion
- References
- Part II: Infantile Hypotonia and Arthrogryposis
- Chapter 6. Neonatal Hypotonia
- Introduction
- History and General Examination
- Neonatal Neuromuscular Examination
- Distinguishing Features of Motor System Disorders
- Conclusion
- References
- Chapter 7. Arthrogryposis
- Introduction
- Historical Background
- Epidemiology
- Pathogenesis
- Clinical Features
- Genotype/Phenotype Correlation
- Arthrogryposis Associated with Maternal Illnesses
- Therapy
- Prognosis
- Relatively Common Specific Conditions Associated with Multiple Congenital Contractures
- Chromosomal Anomalies
- Maternal Antibodies with and Without Myasthenia Gravis
- Acknowledgments
- References
- Part III: Motor Neuron Disorders
- Chapter 8. Spinal Muscular Atrophies
- Introduction
- Epidemiology
- Clinical Characteristics
- Genetics
- Other Diagnostic Tests
- Molecular Function of SMN
- Differential Diagnosis
- The Pathology of SMA
- Animal Models
- Treatment
- Care of the Patient with SMA
- Conclusion
- Acknowledgments
- References
- Chapter 9. Juvenile Amyotrophic Lateral Sclerosis
- Introduction
- Nosology of Motor Neuron Diseases
- Discussion of Table 9.1
- Management
- Genetic Counseling
- Conclusions
- References
- Chapter 10. Infectious or Acquired Motor Neuron Diseases
- Infantile Poliomyelitis
- Vaccine-Associated Poliomyelitis
- Tetanus: A Combined Perspective from South Africa and North America
- Rabies
- References
- Chapter 11. The Stiff-man Syndrome in Children and Adolescents
- Introduction
- Historical Perspective
- Epidemiology
- Pathophysiology
- Neurological Presentation
- Coexisting Autoimmune Diseases
- Oncological Findings
- Differential Diagnosis
- Testing
- Treatment
- Prognosis
- Conclusion
- References
- Part IV: Peripheral Nerve Disorders
- Chapter 12. Radiculopathies and Plexopathies
- Anatomy
- Diagnostic Procedures
- Cervical Radiculopathies
- Lumbosacral Radiculopathies
- Plexopathies
- References
- Chapter 13. Congenital and Acquired Facial Palsies
- Introduction
- Evaluation of the Facial Nerve in Children
- Congenital Facial Palsies
- Acquired Facial Palsies
- References
- Chapter 14. Mononeuropathies
- Introduction
- Assessment and Evaluation of Peripheral Nerve Lesions in Childhood
- Upper Extremity Mononeuropathies
- Lower Extremity Mononeuropathies
- References
- Chapter 15. Overview of Pediatric Peripheral Neuropathies
- Introduction
- Approach to Evaluating Childhood Neuropathies
- Pediatric Electrodiagnostic Testing
- Trauma
- Nerve Biopsy
- Neuroimaging in Childhood Polyneuropathies
- References
- Chapter 16. Congenital and Early Infantile Neuropathies
- Introduction
- Etiology
- Clinical Presentation and Approach to Peripheral Neuropathies in Early Infancy
- Genetic Demyelinating Neuropathies with Infantile Onset
- Demyelinating Neuropathies of Infancy Associated with Central Nervous System Involvement
- Genetic Axonal Neuropathies with Infantile Onset
- Conclusion
- Acknowledgments
- References
- Chapter 17. Hereditary Neuropathies in Late Childhood and Adolescence
- Definition and Nomenclature
- Epidemiology
- Pathobiology
- Clinical Manifestations
- Neurophysiology
- Genetic Testing and Diagnostic Strategies
- Specific Forms of CMT
- Differential Diagnosis
- Treatment Strategies
- Summary
- References
- Chapter 18. Hereditary Sensory and Autonomic Neuropathies
- Introduction
- Hsan Type I
- Hsan Type II
- Hsan Type III
- Hsan Type IV
- Hsan Type V
- Diagnosis of an Hsan
- Therapeutic Interventions
- References
- Chapter 19. Peripheral Neuropathy in Inherited Metabolic Disease
- Introduction
- Lysosomal Storage Diseases
- Peroxisomal Storage Diseases
- Diseases of Lipids and Lipoproteins
- Glycogen Storage Disease
- Amino Acid Disease
- Mitochondrial Diseases
- Other Inherited Metabolic Diseases
- References
- Chapter 20. Acute Polyneuropathies
- Introduction
- Guillain-Barré Syndrome
- Tick Paralysis
- References
- Chapter 21. Chronic Inflammatory Demyelinating Polyradiculoneuropathy
- Epidemiology
- Pathogenesis
- Clinical Features
- Differential Diagnosis
- Laboratory Studies
- Electrophysiologic Testing
- Nerve Biopsy
- Neuroimaging
- Treatment
- Prognosis
- References
- Chapter 22. Neuropathies Secondary to Systemic Disorders
- Introduction
- Critical Illness Polyneuropathy
- Renal Disorders
- Endocrine Disorders
- Vitamin Deficiency States
- Malignancies and Reticuloses
- Connective Tissue Disorders
- Miscellaneous Systemic Disorders
- References
- Chapter 23. Toxic Neuropathies
- Introduction
- General Features of Toxic Neuropathies
- Selected Toxic Neuropathies
- Conclusion
- References
- Chapter 24. Hansen’s Disease (Leprosy): Leprous Neuropathy
- Introduction
- Skin Manifestations
- Leprosy Neuropathy
- Diagnosis
- Pathophysiology of Nerve Damage
- Treatment
- References
- Part V: Neuromuscular Junction Disorders
- Chapter 25. Acquired Presynaptic Neuromuscular Junction Disorders: Infant Botulism and Lambert-Eaton Myasthenic Syndrome
- Infant Botulism
- Lambert-Eaton Myasthenic Syndrome
- Summary
- References
- Chapter 26. Congenital Myasthenic Syndromes
- Introduction
- Diagnosis
- Classification
- Presynaptic Congenital Myasthenic Syndrome
- Synaptic Basal Lamina Associated CMS
- Postsynaptic CMS
- Currently Available Therapies
- References
- Chapter 27. Juvenile and Neonatal Myasthenia Gravis
- Background
- Pathophysiology
- Clinical Presentation
- Diagnostic Testing
- Medical Therapies
- Surgical Therapies
- Neonatal Myasthenia Gravis and the Fetal Acetylcholine Receptor Inactivation Syndrome
- Prognosis
- Conclusions
- References
- Part VI: Myopathies
- Chapter 28. Congenital and Other Structural Myopathies
- Nemaline Myopathy
- Core Myopathies
- Multiminicore Disease
- Congenital Fiber Type Disproportion
- Centronuclear Myopathies
- Titinopathies
- Myofibrillar Myopathies
- Hyaline Body Myopathy
- Autophagic Vacuolar Myopathies
- Treatment of Congenital Myopathies
- Novel Therapeutic Strategies
- Drug Discovery
- References
- Chapter 29. Congenital Muscular Dystrophies
- Introduction
- Merosin-Deficient CMD
- Dystroglycanopathies
- CMD With Collagen VI Deficiency (Ullrich Disease) SEPN1-Related CMD
- LAMIN A/C-Related CMD
- Differential Diagnosis
- Therapeutic Approaches
- Acknowledgments
- References
- Chapter 30. Dystrophinopathies
- Introduction
- Etiology and Pathogenesis
- Incidence and Prevalence
- Clinical Presentation
- Differential Diagnosis
- Diagnostic Testing
- Treatment and Management
- References
- Chapter 31. Clinical Management of Dystrophinopathies: A Systematic Approach
- Introduction
- Duchenne Muscular Dystrophy
- Other Dystrophinopathies: Becker Muscular Dystrophy and Manifesting Carriers of DMD/BMD
- Conclusions
- References
- Chapter 32. Facioscapulohumeral Dystrophy
- Introduction
- Clinical Features
- Extramuscular Manifestations
- Infantile FSHD
- FSHD Variants
- Scapulohumeral Dystrophy Phenotype with Facial Sparing
- Differential Diagnosis
- Laboratory Tests
- Management
- Prognosis
- Genetics
- References
- Chapter 33. Distal Myopathies
- Early Onset Distal Myopathies
- Juvenile Onset Distal Myopathies
- References
- Chapter 34. Limb-girdle Muscular Dystrophies
- Introduction
- Autosomal Recessive Limb-Girdle Muscular Dystrophies
- Autosomal Dominant LIMB-Girdle Muscular Dystrophies
- Other Muscular Dystrophies that May Present as LGMD
- Summary and Approach to Patients
- References
- Chapter 35. Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies
- Introduction
- Historical Background
- Molecular Biology
- Pathogenesis
- Clinical Features
- Differential Diagnosis
- Genotype-Phenotype Correlation
- Laboratory Investigations
- Therapy
- Prognosis
- Acknowledgments
- References
- Chapter 36. Myopathies of Systemic Disease
- Introduction
- Hyperthyroidism
- Hypothyroidism
- Parathyroid Disease
- Cushing’s Syndrome
- Uremia
- Osteomalacia
- Hypokalemia
- Hypernatremia
- Primary Hyperparathyroidism
- Human Immunodeficiency Virus
- Lyme Disease
- Sepsis/Intensive Care Unit Myopathies
- Medication-Related Myopathies
- Inflammatory Myopathies Associated with Systemic Disorders
- Eosinophilic Myopathic Syndromes
- References
- Chapter 37. Myotonic Dystrophy
- Clinical Presentation and Phenotypes
- Molecular Genetics
- Diagnostic Approach
- Management
- References
- Chapter 38. Muscle Channelopathies: Myotonias and Periodic Paralyses
- Introduction
- Electrophysiology of Clinical Weakness and Paralysis
- Myotonias
- Paramyotonia
- Periodic Paralyses
- Acknowledgments
- References
- Chapter 39. Glycogen Storage Diseases of Muscle
- Introduction and Background
- Forearm Ischemic Exercise Test
- Defects of Glycogenolysis
- Defects of Glycolysis
- Defects of Glycogen Synthesis
- Defects of Lysosomal Glycolysis
- References
- Chapter 40. Lipid Storage Myopathies Due to Fatty Acid Oxidation Defects
- Historical Background
- Pathophysiology
- Clinical and Biochemical Features of Identified Defects
- Differentiating Laboratory Features
- Diagnostic Approaches and Screening Methods
- Treatment
- Genetics and Presymptomatic Recognition
- Conclusion
- Acknowledgments
- References
- Chapter 41. Mitochondrial Encephalomyopathies
- Introduction
- Diseases Due to mtDNA Mutations
- Diagnostic Approach
- Therapeutic Approaches
- References
- Chapter 42. Juvenile Dermatomyositis and Other Inflammatory Myopathies in Children
- Introduction
- The Epidemiology of the Major Pediatric Inflammatory Myopathies
- Pathogenesis/Genetic Data
- Course and Therapy
- Other Less Common Forms of Inflammatory Myopathy
- Conclusion
- References
- Part VII: Special Clinical Problems
- Chapter 43. Neuromuscular Problems of the Critically Ill Neonate and Child
- Introduction
- Acute Neuromuscular Crises in the Infant
- Acute Neuromuscular Crises in the Toddler and the Older Child
- Critical Illness Neuromuscular Disorders
- Conclusions
- References
- Chapter 44. Intensive Care Management, Including Cardiorespiratory Care
- Historical Background
- Intensive Care
- Ethics
- Normal Physiology
- Pathophysiology
- Evaluation
- Treatment
- References
- Chapter 45. Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism
- Malignant Hyperthermia—Deaths in General Anesthesia
- Muscular Hypermetabolism by Rampant Ca2+
- Anesthesia-Related Muscle Spasms
- Awake Episodes
- MH and Childhood
- Functional Diagnostics—In Vitro Contracture Test
- Genetic Diagnostics
- Creatine Phosphokinase
- Histological Findings and Core Formation
- Associated Syndromes and MH-Like Episodes
- Clinical Considerations
- References
- Chapter 46. Disorders of the Ocular Motor Cranial Nerves and Extraocular Muscles
- General Principles
- The Extraocular Lower Motor Unit
- Examination Approach to Extraocular Movement Disorders
- Cranial Nerve Palsies
- Congenital Ptosis Syndromes
- Congenital Cranial Dysinnervation Disorders
- Synkinesis Syndromes
- Ophthalmoplegia in Pediatric Neuromuscular Disease
- References
- Chapter 47. Oromotor Dysfunction in Neuromuscular Disorders: Evaluation and Treatment
- Introduction
- Oromotor Dysfunction Due to Neuromuscular Disorders
- Neuromuscular Disorders with Associated Oromotor Dysfunction
- OMS Dysfunction Assessment
- Treatment of Oromotor Dysfunction Due to a Neuromuscular Disorder
- References
- Chapter 48. Complex Regional Pain Syndromes I and II (Reflex Sympathetic Dystrophy, Causalgia)
- Introduction
- Incidence and Prevalence
- Pathophysiology
- Diagnosis
- Treatment
- Prognosis
- References
- Chapter 49. Friedreich Ataxia
- Introduction
- Epidemiology
- Pathology
- Clinical Aspects
- Differential Diagnosis
- Molecular Genetics
- New Approaches to Treatment
- References
- Chapter 50. Dominantly Inherited Spinocerebellar Syndromes
- Introduction
- SCAs Caused by Polyglutamine Expansions
- SCAs Caused by Other (Nonpolyglutamine) Repeat Expansions
- SCAs Caused By Missense Mutations
- SCAs of Unknown Cause
- Episodic Ataxias
- Clinical Case Descriptions
- Diagnosis
- Therapy
- Acknowledgments
- References
- Part VIII: General Therapeutic Principles
- Chapter 51. Principles and Practice of Molecular Therapies
- Introduction
- Newborn Screening for Muscular Dystrophy: The Key to Making a Therapeutic Difference
- Gene Repair through Exon Skipping and Mutation Suppression
- Ignoring Stop Codons Using Small Molecules
- Gene Replacement Strategies Targeting Specific Muscular Dystrophies
- Vascular Delivery to Improve Clinical Outcomes
- Therapeutic Enhancement Using Surrogate Genes
- Strategies responsive to Immunity of AAV and/or Transgene
- Summary
- Acknowledgments
- References
- Chapter 52. Orthopedic Management
- Introduction
- Spinal Muscular Atrophy
- Hereditary Sensory and Motor Neuropathies
- Friedreich Ataxia
- Duchenne Muscular Dystrophy
- Becker Muscular Dystrophy
- Congenital Myotonic Dystrophy
- Congenital Myopathies
- Arthrogryposis
- Cerebral Palsy
- References
- Chapter 53. Rehabilitation of the Child with a Neuromuscular Disorder
- Introduction
- Rehabilitation Goals and Programs
- Rehabilitation Therapies
- Assistive Devices
- Assistive Technology
- Alternative Therapies
- Conclusion
- References
- Chapter 54. Outcome Measures in Neuromuscular Diseases
- Introduction: What are Outcome Measures?
- Outcome Measures in Different Stages of Therapeutics Development
- Clinical Outcome Measures
- Potential Biomarkers
- Patient Reported Outcome Measures
- Conclusions
- References
- Index
Product details
- No. of pages: 1160
- Language: English
- Copyright: © Academic Press 2014
- Published: November 25, 2014
- Imprint: Academic Press
- Hardcover ISBN: 9780124170445
- eBook ISBN: 9780124171275
About the Editors
Basil Darras

Affiliations and Expertise
H. Royden Jones, Jr.
Affiliations and Expertise
Monique Ryan
Affiliations and Expertise
Darryl De Vivo
Affiliations and Expertise
Ratings and Reviews
Latest reviews
(Total rating for all reviews)
Marzieh B. Wed May 16 2018
Neuromuscular Disorders of Infancy, Childhood, and Adolescence
It is excellent book which gives overview about all of the neuromuscular disorders.Howevere electrodiagnostic data of these diseases are not sufficient in this book.
Joan P. Mon May 14 2018
Neuromuscular disorders in infancy, childhood and adolescents
A great review with practical and relevant clinical information.
Joan P. Thu Dec 28 2017
Neuromuscular disorders in infancy, childhood and adolescents
It ia indeed a great review of the paediatric neuromuscular pathology and it has very useful daignostic-therapeutic algorithms for the clinical day practice. It has been a great purchase.