Myotonic Dystrophy

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Peter 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 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 disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies.

Both DM1 and DM2 affect several aspects of physical and mental functioning to varying degrees and with variable scope. The following sections discuss different problems that can occur, although many people with the disease have only some of them. Myotonic dystrophy is the most common adult form of muscular dystrophy - thought to affect at least 1 in 8,000 people worldwide.