Myasthenia in Children [Hardcover]

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.

Author Appointments ix

Foreword xi

Preface xiii

Acknowledgements xv

1. The Neuromuscular Junction 1
Pedro M Rodr?guez 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 Rodr?guez CrlÓ(