Myotonic Dystrophy

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Peter Harper (University Research Professor in Human Genetics, Cardiff University, UK)

Myotonic Dystrophy

Peter Harper (University Research Professor in Human Genetics, Cardiff University, UK)

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English

Oxford University Press
23 June 2009

Medicine; Hereditary diseases & disorders; Musculoskeletal medicine; Popular medicine & health

Series: The Facts

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 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.

By: Peter Harper (University Research Professor in Human Genetics Cardiff University UK)
Imprint: Oxford University Press
Country of Publication: United Kingdom
Edition: 2nd Revised edition
Dimensions: Height: 196mm, Width: 130mm, Spine: 7mm
Weight: 130g
ISBN: 9780199571970
ISBN 10: 019957197X
Series: The Facts
Pages: 120
Publication Date: 23 June 2009
Audience: General/trade , Professional and scholarly , ELT Advanced , Undergraduate
Format: Paperback
Publisher's Status: Active

1: What is Myotonic dystrophy? 2: Muscle symptoms and Myotonic dystrophy 3: Looking ahead 4: Not just a muscle disease 5: Children with Myotonic dystrophy 6: 'Type 2' Myotonic dystrophy 7: Family aspects and genetic risks 8: Advances in research 9: Support and information 10: Management and treatment now 11: The future-towards effective prevention and cure for Myotonic dystrophy 12: Conclusion Appendices Bibliography Index

<br>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.<br>

Reviews for Myotonic Dystrophy

This is an excellent primer for patients who have been diagnosed with a rare condition and seek information...it is a perfect small resource for families and those afflicted with the disorder. * Doody's Notes *