Myotonic Dystrophy

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INFORMATION

AUTHOR
Peter Harper
DIMENSION
11,6 MB
FILE NAME
Myotonic Dystrophy.pdf
ISBN
2635745454294

DESCRIPTION

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.

Unlike the other muscular dystrophies, the muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) and by a variety of symptoms that affect parts of the body other than the muscles. Myotonic Dystrophy Prognosis It is a type of muscular dystrophy that is characterized by problems in muscles as well as many other organs in the human body. Unlike other types of muscular dystrophy, this condition does not become a problem until people each their adulthood.

Myotonic Dystrophy is a tri-nucleotide repeat, autosomal dominant disease characterized by an inability to relax (myotonia) and muscle wasting (muscular dystrophy). Myotonic dystrophy type 1 (MD1) is an autosomal dominant inherited disorder characterized by myotonia and muscle weakness. The incidence is estimated to by about 1/10,000, so it is a much rarer disorder than narcolepsy.

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