Myotonic Dystrophy

Paperback | October 15, 2009

byPeter Harper

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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 otherdystrophies, 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 newmaterial 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 ofthe condition are also included, as well as comprehensive discussion of the recent on-going worldwide research.New to this edition are 'Key Facts' at the beginning of each chapter, 'frequently asked question' boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.

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From the Publisher

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 otherdystrophies, it also affects the organs in the body, ma...

Peter Harper is a University Research Professor in Human Genetics at Cardiff University, Wales. He is a member of the UK's Advisory Committee on Genetic Testing, and has a long-standing research interest in inherited neurological disorders, especially Huntington disease and Myotonic dystrophy.

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Format:PaperbackDimensions:128 pages, 7.72 × 5.08 × 0.02 inPublished:October 15, 2009Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:019957197X

ISBN - 13:9780199571970

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Table of Contents

1. What is Myotonic dystrophy?2. Muscle symptoms and Myotonic dystrophy3. Looking ahead4. Not just a muscle disease5. Children with Myotonic dystrophy6. 'Type 2' Myotonic dystrophy7. Family aspects and genetic risks8. Advances in research9. Support and information10. Management and treatment now11. The future-towards effective prevention and cure for Myotonic dystrophy12. ConclusionAppendicesBibliographyIndex

Editorial Reviews

"This book is a gem that patients with this condition will want to read and own." --Doody's Journal February 2003