Main description:

Myasthenia is a rare, but underdiagnosed and sometimes life-threatening disorder in children. There are no guidelines for diagnosing and managing these children, especially those with congenital myasthenia, a more recently recognised genetic condition, but there have been significant developments in identification and treatment of myasthenia in recent years. This book will help clinicians and families of children with this rare condition direct management effectively.

Myasthenia in Children describes the various genotypes and phenotypes of congenital myasthenic syndromes, their clinical features and management. Autoimmune myasthenia gravis and newly recognised myopathies with neuromuscular transmission defects are also covered. The book includes a client perspective and is full of practical tips from carers, service users and therapists with a broad multi-disciplinary treatment approach. This book will guide future holistic management of this rare but life changing condition for some children and their families.

Contents:

Author Appointments ix

Foreword xi

Preface xiii

Acknowledgements xv

1. The Neuromuscular Junction 1
Pedro M Rodriguez Cruz and David Beeson

2. Neurophysiology of Neuromuscular Transmission and its Defects in Children 13
Matthew Pitt

3. Disorders of Neuromuscular Transmission: An Overview 23
Vamshi K Rao, Nancy L Kuntz

4. Epidemiology of Myasthenia in Childhood 29
Samyami Chowdhury, Jeremy Parr and Sandeep Jayawant

5. Autoimmune Myasthenia in Children 37
Sithara Ramdas, Heinz Jungbluth

6. Congenital Myasthenic Syndromes 51
Sandeep Jayawant, Pedro M Rodriguez Cruz, Jacqueline Palace and David Beeson

7. Drug Treatments in Congenital Myasthenic Syndromes 69
Sithara Ramdas, Pinki Munot and Stephanie Robb

8. Neuromuscular Disorders with Transmission Defects 75
Vamshi K Rao and Nancy L Kuntz

9. Respiratory Care in Childhood Myasthenia 87
Andrew Ives

10. Therapy and Exercise in Myasthenia 99
Hayley Ramjattan

11. Transition of Care in Myasthenia 105
Sithara Ramdas and David Hilton-Jones

12. "Living Well" with Congenital Myasthenia: A Child and Family's Perspective 109
Gordon Webster, Kerry Webster, James Webster and Adam Webster

Index 117