Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach

Overview

This book offers the best and most-up-to-date comprehensive review of the molecular genetics, pathogenesis, diagnosis, management and prognosis in pediatric neuromuscular disorders. It is the only pediatric neuromuscular text that in addition to muscle diseases, also includes disorders of the motor neuron, peripheral nerve, and neuromuscular junction, other entities such as hypotonia, arthrogryposis multiplex congenita, ataxias, and complex regional pain syndromes, and special considerations such as novel ...

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Overview

This book offers the best and most-up-to-date comprehensive review of the molecular genetics, pathogenesis, diagnosis, management and prognosis in pediatric neuromuscular disorders. It is the only pediatric neuromuscular text that in addition to muscle diseases, also includes disorders of the motor neuron, peripheral nerve, and neuromuscular junction, other entities such as hypotonia, arthrogryposis multiplex congenita, ataxias, and complex regional pain syndromes, and special considerations such as novel molecular therapeutic interventions, outcome measures and orthopedic management. All chapters are written by major international experts in the field. This is the only comprehensive and up-to-date textbook on motor unit disorders of infancy, childhood and adolescence in the world to date.

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Product Details

  • ISBN-13: 9780124170445
  • Publisher: Elsevier Science
  • Publication date: 12/15/2014
  • Edition number: 2
  • Pages: 1160

Meet the Author

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.

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.

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 include the SMA Clinical Research Center, an intramural affiliate of the MNC. Recently, the PNCRN, established in 2004, has been expanded to six academic sites at Columbia, Harvard, Penn, Rochester, Nemours/Orlando and Stanford. This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.

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Table of Contents

SECTION I. Clinical and Laboratory Approach to the Infant and Child with a Neuromuscular Problem

SECTION II. Infantile Hypotonia and Arthrogryposis

SECTION III. Motor Neuron Disorders

SECTION IV. Peripheral Nerve Disorders

Radiculopathies and Plexopathies

Mononeuropathies

Polyneuropathies

SECTION V. Neuromuscular Junction Disorders

SECTION VI. Myopathies

SECTION VII. Special Clinical Problems

Ataxias

SECTION VIII. General Therapeutic Principles

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