Description

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference.

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
      • M

Details

No. of pages:
1160
Language:
English
Copyright:
© 2015
Published:
Imprint:
Academic Press
Print ISBN:
9780124170445
Electronic ISBN:
9780124171275

About the authors

Basil Darras

Dr. Basil T. Darras is Associate Neurologist-in-Chief and Chief of the Division of Clinical Neurology at Boston Children’s Hospital, and the Joseph J. Volpe Professor of Neurology at Harvard Medical School. Dr. Darras is a pediatric neurologist with advanced training and certification in human genetics and neuromuscular medicine. At Boston Children’s he serves as Director of the Neuromuscular Program, which includes one of the oldest and most active muscular dystrophy clinics in the country and where he specializes in the care of children with neuromuscular conditions originating from inherited or acquired conditions of the motor unit. He has published over 140 original reports in peer-reviewed journals and over 70 chapters, reviews and editorials; his major publications and specific research interests have focused on the molecular genetics, diagnostics, and therapeutics of Duchenne and Becker muscular dystrophies and spinal muscular atrophy, and on defining the indications for new diagnostic methodologies in the evaluation of children with pediatric neuromuscular diseases. Basic research, carried out in collaboration with scientists in the research laboratories of Boston Children’s and other institutions, focuses on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies and muscular dystrophies. Dr. Darras is site PI for the consortium conducting Pediatric Neuromuscular Clinical Research in Spinal Muscular Atrophy, and site PI/PD for the NeuroNEXT NINDS Program. He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.