Myotonic Dystrophy: The Facts (Oxford Medical Publications)

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9780198525868: Myotonic Dystrophy: The Facts (Oxford Medical Publications)
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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 indviduals who are diagnosed with the disease and their families. It is present for many depths of a patient's life and has many attendant implications. Associated problems with other organs of the body, for example, which does not occur in the other dystrophies, making this very distinctive disorder, and very troubling one for those close to it. This book covers a wide range of aspects of the disease, and explains in simple terms exactly what the condition is, what the symptoms are and how they can or might develop. Also discussed is how to present them, or spot them early enough to treat them, and so limit any potential debilitation. Routes for further study are gone into, as it is not claimed that the book is exhaustive, it does not, for example, cover the very rarest manifestations of the illness. Self education is encouraged and this book gives anyone interested the tools with which to find out more and empower themselves by taking an active role in their own treatment. Most importantly, it carries the message that there is hope, something can be done, even if there is, as yet, no actual cure. Any patient who has left a diagnostic consultation with the impression that there is nothing to be done will find this a great source of hope and strength.
There are few clinicians more experienced in this field than Peter Harper who has studied and written extensively on the subject.

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About the Author:

Peter Harper is Professor of Medical Genetics at University of Wales College of Medicine, Cardiff, and Consultant Clinical Geneticist and Physician at University Hospital of Wales. After studying Genetics and Biology at Oxford University and Clinical Medicine in London, he trained in Medical Genetics, first in Liverpool, then in Baltimore with Dr Victor McKusick. Peter Harper has had a long-standing research interest in inherited neurological disorders, especially Huntington's disease and myotonic dystrophy. He has been extensively involved in the practice and development of genetic counselling, More recently he has been involved with social and ethical aspects of medical genetic developments He is a member of the UK regulatory body Advisory Committee on Genetic Testing and has helped to develop public policy in the UK and internationally in relation to Medical Genetics

Review:

You couldn't ask for a better book about this complex disease ... For anyone with this disease in the family, it's a must read at a bargain price. Quest: The Journal of the Muscular Dystrophy Association, Vol 9, No 5 ... the first book to be published for lay people who have the condition. It is written clearly for people with no medical expertise. Yours This book is a gem that patients with this condition will want to read and own. Doody's Journal

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