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Informationen zum Autor Dr Sandeep Jayawant is a consultant in Paediatric Neurology and has had an interest in neuromuscular disorders for 16 years. Neuromuscular Fellowship from Hammersmith hospital, London. Paediatric Lead for National Congenital Myasthenia Service at Oxford for 15 years with experience in diagnosis and management of children with congenital and autoimmune myasthenia for over 15 years. Oxford has achieved the honour of being recognised as a European Neuromuscular Centre of Excellence and in 2018, Dr Jayawant was nominated as Oxford University Hospitals Trust's Doctor of the Year. Klappentext 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. Inhaltsverzeichnis Author Appointments ix Foreword xi Preface xiii Acknowledgements xv 1. The Neuromuscular Junction 1 Pedro M Rodríguez 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 Rodríguez 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 ...
