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Myotonic Dystrophy : Present management, future therapy - Peter Harper

Myotonic Dystrophy

Present management, future therapy

By: Peter Harper (Editor), Baziel van Engelen (Editor), Bruno Eymard (Editor), Douglas Wilcox (Editor)

Hardcover Published: 1st April 2004
ISBN: 9780198527824
Number Of Pages: 264

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This book provides a full and practical account of management of myotonic dystrophy, the commonest muscular dystrophy of adult life and a condition of exceptional variability. Written for neurologists, clinical geneticists and other clinical geneticists and other clinical specialties involved with the disorder, it deals with both the neurological aspects and also the wide range of systematic complications that may occur. In addition it provides details of information and support available to patients and families and gives a summary of the present state of clinical trials of therapeutic agents. These sections are preceded by general introductory chapters describing both the clinical features and also the current state of research into understanding the underlying mechanisms.

This book written by the main world experts in the field is a practical outline for both the clinicians and families. I strongly recommend it. European Journal of Paediatric Neurology, Vol 10 ... illustrates all the various clinical aspects of this complex disease and gives insight into the pathogenesis and possibilities of the management of each complication at the different stages of myotonic dystrophy. The completeness of the data presented in each chapter is imporessive. The chapters are well structured and the illustrations are clear and informative. The flow charts are adequately structured and easy to understand. The references are well-selected and up-to-date. All chapters are written by renowned experts in the field of the myotonic dystrophies and neuromuscular diseases. It is a most educative book for clinicians working in the field of the neuromuscular diseases and for geneticists responsible for the genetic counselling of patients with myotonic dystrophy. Human Genetics ... a book that offers a wealth of up-to-date, practical and relevant information. Reflecting the central role of neuromuscular assessment and clinical management issues, this book is to be recommended as an essential reference for every neurologist involved in the care of patients with myotonic dystrophy. Neuromuscular Disorders, 14

Section 1 - Introduction: Clinical and biological basis of myotonic dystrophy 1: Peter Harper: Myotonic dystrophy: a multi-systemic disorder 2: Tetsua Ashizawa and Darren Monckton: Molecular aspects of myotonic dystrophy: our current understanding Section 2 - Neuromuscular management of myotonic dystrophy 3: Giovanni Meola and David Hilton-Jones: Diagnosis and baseline investigation: a core protocol 4: Bruno Eymard and I Dobon: Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it 5: Mark Rogers and Jean Mathieu: Follow up and assessment protocols for myotonic dystrophy 6: Jean Mathieu and Margaret Phillips: Physical disability in myotonic dystrophy Section 3 - Characterisation and management of systemic aspects 7: Denis Duboc, Bruno Eymard and Maxwell Damian: Cardiac management of myotonic dystrophy 8: Mark Rogers and Paul Clyburn: Anaesthesia and myotonic dystrophy 9: Margaret Phillips: Respiratory problems in myotonic dystrophy and their management 10: Baziel van Engelen and Han Brunner: Gastrointestinal dysfunction in myotonic dystrophy 11: Asa Johannson and Tommy Olsson: Endocrine changes in myotonic dystrophy 12: David Hilton-Jones, Maxwell Damian and Giovanni Meola: Somnolence and its management Section 4 - Special aspects of management 13: Sabine Rudnik and Christine de Die-Smulders: Pregnancy and perinatal problems in myotonic dystrophy 14: Christine de Die-Smulders: Congenital and childhood-onset myotonic dystrophy 15: Peter Harper and Han Brunner: Genetic counselling and genetic testing in myotonic dystrophy Section 5 - Information and support 16: Douglas Wilcox: Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy 17: Shannon Lord: Support groups for myotonic dystrophy and their role: an American family perspective Section 6 - Therapeutic trials and future advances 18: Charles Thornton, Richard Moxley and Robert Griggs: Therapeutic trials and future advances

ISBN: 9780198527824
ISBN-10: 0198527829
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 264
Published: 1st April 2004
Publisher: Oxford University Press
Country of Publication: GB
Dimensions (cm): 24.1 x 16.1  x 1.9
Weight (kg): 0.48