Myotonic Dystrophy

ISBN-13: 9780199571970 / Angielski / Miękka / 2009 / 128 str.

Peter S Harper

Opis

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. Features * Written clearly and simply for those with no medical expertise * Provides essential information on genetic testing, and how to make the difficult decisions * Gives those caring for sufferers the hope and support they need * Lists details of support groups and websites for further help and advice * Key points at the beginning of each chapter highlight important aspects of the chapters to the reader * Frequently asked questions are interspersed throughout the text in boxes for readers to quickly identify the answers to common queries

Recenzje

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.

O autorze

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.