Myasthenia in Children – Chapter 1: The Neuromuscular Junction (free ebook)
This chapter is part of Myasthenia in Children
Product Type: PDF (Sub-Section of Book)
Series: Clinics in Developmental Medicine
Publication date: November 2019
Page count: 11
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Chapter 1 – The Neuromuscular Junction by Pedro M Rodríguez Cruz and David Beeson from Myasthenia in Children
The neuromuscular junction (NMJ) is a highly specialised synapse between a motor neuron and a muscle fibre, which is essential for neuromuscular transmission. In this chapter, the most fundamental aspects of the NMJ organisation, structure and physiology biology, and physiology will be reviewed. This will provide the background to understanding the physiopathology and clinical manifestations of myasthenic disorders, either autoimmune (myasthenia gravis) or genetic (congenital myasthenic syndromes).
About the Complete Book
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.
- Only book dedicated to this rare condition in children
- Includes the latest developments on congenital myasthenia, a newly recognised condition
- Uses a holistic, multi-disciplinary therapeutic approach to achieve best outcomes for children with this condition
- Features the very latest treatment approaches
- Includes practical management information for families and young persons with this condition, with one chapter written by the family of a child with myasthenia
Paediatricians, Paediatric neurologists, and allied health professionals, including physiotherapists, occupational therapists, psychologists and specialist nurses.
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Clinics in Developmental Medicine
- 1 The Neuromuscular Junction
- Professor David Beeson and Dr Manon Lee
- 2 Neurophysiology of Neuromuscular Transmission and its Defects in Children
- Dr Matthew Pitt
- 3 Disorders of Neuromuscular Transmission: An Overview
- Dr Nancy L Kuntz and Dr Vamshi K Rao
- 4 Myopathies with neuromuscular transmission defects
- Dr Nancy L Kuntz
- 5 Epidemiology of Myasthenia in Childhood
- Dr Sandeep Jayawant and Dr Morag Andrew
- 6 Autoimmune Myasthenia in Children
- Professor Heinz Jungbluth and Dr Sithara Ramdas
- 7 Congenital Myasthenic Syndromes
- Dr Sandeep Jayawant, Dr Stephanie Robb and Professor David Beeson
- 8 Treatment of Congenital Myasthenic Syndromes
- Dr Stephanie Robb and Dr Jackie Palace
- 9 Respiratory Management in Childhood Myasthenia
- Dr Andrew Ives
- 10 Therapy and Exercise in Myasthenia
- Ms Hayley Ramjattan
- 11 ‘Living well’ with Congenital Myasthenia: Child and Family Perspectives
- Dr Gordon Webster, Kerry Webster, James Webster and Adam Webster
- 12 Transition of Care in myasthenia
- Dr Sithara Ramdas and Dr David Hilton-Jones
'The book ends with an account of the experience of four members of a family with a form of congenital myasthenia. Much wisdom and practical advice is distilled in this chapter, which repays careful reﬂection for the clinician. This book needs to be readily available for anyone in contact with children with one of these conditions – for they are necessarily scattered.' Richard Robinson, Developmental Medicine & Child Neurology, 2020
'This is a unique and original book written about a very subspecialized topic: the diagnosis and multidisciplinary treatment of congenital myasthenic syndromes and autoimmune myasthenia gravis in children. This is a great summary of the current knowledge of myasthenia in children, and the author successfully put together a path for guidelines in the care of these pediatric patients. Author Dr. Sandeep Jayawant is a world known expert from the UK, affiliated with the Oxford Congenital Myasthenia Service and British Paediatric Neurology Association.' Eduardo De Sousa, Mercy NeuroScience Institute, 2020