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Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it.When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals, and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct "type 2 myotonic dystrophy," which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worlwide research.New to this edition are "Key Facts" at the beginning of each chapter, "Frequently Asked Questions" boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.
This book investigates the clinical, genetic, and practical realities of myotonic dystrophy, aiming to provide a comprehensive resource for patients, families, and medical professionals. Author Peter C. Harper, a recognized expert in the field, utilizes current medical research and clinical observations to explain the multisystemic nature of this inherited disorder. The text serves as a structured guide to understanding the progression, management, and ongoing scientific research surrounding both type 1 and type 2 myotonic dystrophy.
What You Will Find
Experts and medical professionals frequently cite this work as a foundational and accessible resource for those navigating a diagnosis. Readers often note the clarity of the prose, which successfully translates complex genetic and clinical information into actionable knowledge for non-specialists.
Page Count:
106
Publication Date:
2009-10-26
Publisher:
Oxford University Press
ISBN-10:
019957197X
ISBN-13:
9780199571970
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