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.

Endorsed by the Myotonic Dystrophy Foundation (US) and the Myotonic Dystrophy Support Group (UK)

About the Author
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.

Reviews
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 *



Book Information
ISBN 9780199571970
Author Peter Harper
Format Paperback
Page Count 120
Imprint Oxford University Press
Publisher Oxford University Press
Weight(grams) 130g
Dimensions(mm) 196mm * 130mm * 7mm