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
Electronic ISBN:
9780124171275
Print ISBN:
9780124170445

About the editors

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.

H. Royden Jones, Jr.

Dr. H. Royden Jones was Chair of the Department of Neurology at Lahey Hospital and Medical Center, Burlington, Massachusetts; Director of the Electromyography Laboratory at Boston Children’s Hospital; and Clinical Professor of Neurology at Harvard Medical School. Dr. Jones completed residencies in Internal Medicine and Neurology and a fellowship in neurological physiology at the Mayo Clinic. He served over 3 years in the United States Army as Chief of Neurology at 5th General Hospital, Bad Cannstatt, Germany. Dr. Jones was Board certified in neurology, clinical neurophysiology, and neuromuscular medicine. Upon completion of his training he joined the Lahey Clinic in 1972. In 1977 he also joined the neurology department at Boston Children’s Hospital, founding the electromyography laboratory in 1979. Pediatric EMG became his major clinical research interest. Dr. Jones was co-editor of three major textbooks on childhood clinical neurophysiology and neuromuscular disorders. He was a co-founder of the biennial International Paediatric EMG Conference based at Great Ormond Street Children’s Hospital, London, England. Recognized as one of the top neurologists in the U.S., Dr. Jones was an author and editor of several Netter publications including two editions of Netter’s Neurology, The Netter Collection of Medical Illustrations: Nervous System, Volume 7, Part I (Brain) and Part II (Spinal Cord and Peripheral Motor and Sensory Systems), 2nd Editions (volumes in the Netter Green Book Collection). Dr. Jones authored and edited several other Netter publications and contributed over 200 peer-reviewed papers and book chapters. Dr. Jones served 8 years as a director of the American Board of Psychiatry and Neurology, becoming Chair of its Neurology Council in 2004. In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic’s Medical Staff Association recognized Dr. Jones in 2010 with i

Monique Ryan

Associate Professor Monique Ryan is a paediatric neurologist in the Children’s Neurosciences Centre, Royal Children’s Hospital, Melbourne Australia, where she is head of the neuromuscular clinical research program and multidisciplinary Neuromuscular Clinic. This clinic oversees the care of more than 500 children with neuromuscular disorders. A/Prof Ryan’s research interests include natural history studies of paediatric neuropathies and clinical trials of new therapies for muscle diseases, neuropathies and myasthenic syndromes of childhood. Her group undertook the landmark initial study of treatment of paediatric Charcot-Marie-Tooth disease type 1A with ascorbic acid, the first randomized, double-blind placebo-controlled therapeutic trial in paediatric CMT. Other research trials previously or currently undertaken at RCH include trials of novel therapeutics for Duchenne muscular dystrophy and spinal muscular atrophy, a number of studies addressing the natural history of various forms of paediatric CMT, and studies identifying new genes for CMT. A/Prof Ryan is a member of several international neuromuscular research consortia, a board member of CINRG and a member of the extended TREAT-NMD therapeutic advisory committee.

Darryl De Vivo

Dr. Darryl C. De Vivo is the Sidney Carter Professor of Neurology, Professor of Pediatrics, and Director Emeritus (1979-2000) of the Pediatric Neurology Service at the Columbia University Medical Center in New York City. He also serves as the Associate Chairman for Pediatric Neurosciences and Developmental Neurobiology, the Founding Director of the Colleen Giblin Research Laboratories for Pediatric Neurology, and the Co-Director of the Center for Motor Neuron Biology and Disease (MNC). Dr. De Vivo was a Director for Neurology and President of the American Board of Psychiatry and Neurology, Secretary of the American Academy of Neurology, and President of the Child Neurology Society. He completed postgraduate training in medicine at the University of Virginia Medical School, and residency training in medicine, pediatrics, and neurology at the Massachusetts Memorial Hospital and the Massachusetts General Hospital, and at the National Institutes of Health where he was a Clinical Associate in Neurology. Dr. De Vivo receives federal and non-federal funding, and serves as the Director for the Pediatric Neuromuscular Clinical Research Network (PNCRN) in Spinal Muscular Atrophy. He has published more than 400 original articles and reviews, lectures extensively in the U.S. and abroad, and serves on several editorial boards and advisory committees. He was honored in 2014 by the American Academy of Neurology as the recipient of the Sidney Carter Award in Pediatric Neurology. He has devoted part of his professional career to the study of neuromuscular diseases. In 1967, he studied at the NINDS as a clinical associate under W. King Engel. In 1975, he and Michael Brooke established the Jerry Lewis Neuromuscular Disease Center at Washington University School of Medicine. In 1979, Dr. De Vivo established the Pediatric Neuromuscular Disease Center at the Columbia University Medical Center, and in 2004, with support from the New York-based SMA Foundation, the Center was expanded to in