Neuromuscular Disorders in Children chapter 10

Neuromuscular Disorders in Children – Chapter 10: An Introduction to Muscular Dystrophies and Duchenne and Becker Muscular Dystrophies (ebook)

This chapter is part of Neuromuscular Disorders in Children

A Multidisciplinary Approach to Management

Product Type: PDF (Sub-Section of Book)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: July 2019

Page count: 21

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Chapter 10 – An Introduction to Muscular Dystrophies and Duchenne and Becker Muscular Dystrophies by Nathalie Goemans from Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management

About the Complete Book

Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management critically reviews current evidence of management approaches in the field of neuromuscular disorders (NMDs) in children. Uniquely, the book focusses on assessment as the cornerstone of management and highlights the importance of a multidisciplinary approach.

A key section describes the clinical picture, diagnosis standards and natural history of the most frequent neuromuscular disorders in children, including:

  • muscular dystrophies
  • spinal muscular atrophy
  • congenital, metabolic, myotonic and inflammatory myopathies
  • myasthenic syndromes
  • and hereditary, acquired and inflammatory neuropathies.

Importantly, much of the book is dedicated to the latest management approaches in key clinical systems typically involved in NMDs. These include physical rehabilitation, orthopaedic, respiratory, gastrointestinal and cardiac management, as well as psychosocial aspects such as the transition to adulthood and sexual health needs. The latest advances in pharmaceutical therapies and future therapeutic strategies are also discussed.

From the Foreword

“Neuromuscular Disorders in Children… is consistently patient-centred, will help readers learn about the latest classification and treatment options for these diseases, and hopefully influence their attitudes and decisions caring for patients with NMDs. With broad distribution, this book will help to improve the fate and quality of life of many patients suffering from NMDs, as well as their families.”

Rudolf Korinthenberg MD

Professor Emeritus of Neuropaediatrics and Muscular Disorders

Readership

This book will prove a principal resource for all professionals involved in the care of children with NMDs, including neurologists, paediatricians, pneumologists, rehabilitation specialists, cardiologists, orthopaedists, physiotherapists, psychologists, occupational therapists and speech therapists.

Clinics in Developmental Medicine

Nicolas Deconinck (Editor)

Prof. Nicolas DECONINCK

Nicolas Deconinck is Professor and Deputy Head of Neurology at Hôpital Universitaire des Enfants Reine Fabiola, Belgium, where he leads the pediatric neuromuscular unit.  He is also head of the clinical research programme at the Neuromuscular Center at Ziekenhuis University, Gent Belgium. Prof Deconinck is currently involved in several important new treatment development programmes in spinal muscular atrophy and Duchenne muscular dystrophy. He is actively involved in national and international research networks, with particular interest in the multidisciplinary aspects and the dissemination of standards of care.

Nathalie Goemans (Editor)

Dr Nathalie Goemans

Nathalie Goemans is a paediatrician and child neurologist, with certification in rehabilitation medicine.  She is head of the Neuromuscular Reference Centre for Children at the University Hospitals, Leuven, Belgium.  Her research activities involve translational and clinical research in various neuromuscular disorders, the development of new therapies for Duchenne muscular dystrophy and spinal muscular atrophies and the research and development of outcome measures to assess interventions in these diseases. She has contributed to over 80 journal articles on neuromuscular disorders.

  • Full book contents:
  • Foreword
  • Rudolf Korinthenberg
  • Preface
  • Nicolas Deconinck and Nathalie Goemans
  • Section 1: Introduction
  • 1. Parent Perspectives on Neuromuscular Disorders: From Diagnosis, to Parenting and Living With, to Advance Care Planning and Preparing for Death
  • Anne Rutkowski, Stacy Cossette, Anne Lennox and Ann Schrooten
  • 2. The Importance of Setting up Guidelines for Neuromuscular Disorders
  • Thomas Sejersen
  • 3. A Multidisciplinary Approach and Management as Best Care Model in Neuromuscular Disorders
  • Nathalie Goemans
  • Section 2: Assessment of a Child with a Neuromuscular Disorder: The Cornerstone for Management
  • 4. Clinical Evaluation and Diagnostic Approach
  • Nicolas Deconinck, Sandra Coppens and Gauthier Remiche
  • 5. The Importance of Evaluating Function in Neuromuscular Disorders
  • Anna G Mayhew
  • Section 3: Overview of the Most Frequent Neuromuscular Conditions in Children and Disease Specific Medical Management
  • 6. Spinal Muscular Atrophy and Other Motor Neuron Diseases
  • Wendy K M Liew, Banu Sundar and Basil T Darras
  • 7. Inherited Neuropathies
  • Nicolas Deconinck and Lionel Paternoster
  • 8. Acquired Neuropathies
  • Nicolas Deconinck
  • 9. Disorders of the Neuromuscular Junction: Inherited Myasthenic Syndromes and Juvenile Myasthenia Gravis
  • Nicolas Deconinck
  • 10. Duchenne and Becker Muscular Dytrophies
  • Nathalie Goemans
  • 11. Limb Girdle Muscular Dystrophies
  • Nathalie Goemans
  • 12. Congenital Muscular Dystrophies
  • Nathalie Goemans
  • 13. Facioscapulohumeral Muscular Dystrophy
  • Nicolas Deconinck
  • 14. Congenital Myopathies
  • Sandra Coppens
  • 15. Myotonic Dystrophies
  • Liesbeth De Waele
  • 16. Pompe Disease
  • Boglarka Bansagi and Peter Witters
  • 17. Mitochondrial Disorders
  • Rudy van Coster
  • 18. Channelopathies
  • Nicolas Deconinck
  • 19. Inflammatory Myopathies
  • Nicolas Deconinck and Laurence Goffin
  • Section 4: Physical Rehabilitation and Orthopaedic Management
  • 20. Lifelong Physiotherapy: Staying Active
  • Imelda de Groot
  • 21. Management of of Contractures: Stretching, Positioning and Splinting
  • Tina Duong and Kristy Rose
  • 22. Occupational Therapy and Robotics
  • Imelda de Groot
  • 23. Orthopedic Complications in Neuromuscular Disorders
  • Maarten Van Nuffel and Pierre Moens
  • 24. Neuromuscular Scoliosis
  • Pierre Moens
  • Section 5: Respiratory Management
  • 25. Assessment and Management of Respiratory Function in Children with Neuromuscular Disorders
  • Oscar Mayer, Hemant Sawnani and Michel Toussaint
  • Section 6: Feeding and Gastrointestinal Management
  • 26. Gatro-intestinal Complications and Nutrition
  • Hasan Özen and Haluk Topalogou
  • Section 7: Cardiac Management
  • 27. Cardiac Management in Children with Neuromuscular Disorders
  • Karim Wahbi
  • Section 8: Psychosocial Aspects
  • 28. Cognitive, Behavioral and Psychosocial Aspects of Growing Up with a Neuromuscular Disease
  • Sam Geuens
  • 29. Transition to Adulthood
  • Ros Quinlivan
  • 30. Sexual Health Needs in Patients with Neuromuscular Disorders
  • Laurent Servais

'New therapeutic developments, predominantly based on molecular techniques, give rise to the hope that children with neuromuscular disorders will have a significantly better perspective than before. Even if these cause-oriented therapies are currently only available for a limited number of diseases, advances of symptomatic treatment help to improve the quality of life and the life expectancy of most of the neuromuscular patients. The aim of this book is to present the current therapeutic knowledge about neuromuscular diseases in children in a comprehensive and up-to-date way to guide the decisions in everyday clinical life. The authors are internationally renowned experts in the neuromuscular field with many years of experience in diagnostics and treatment. Altogether an excellent book, which can be warmly recommended to all pediatric neurologists with interest inneuromuscular disorders.' Wolfgang Müller-Felber, Neuropediatrics, 2019