Myotonic Dystrophy

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Oxford University Press, 2002 - Medical - 113 pages
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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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Contents

thefacts CONTENTS 1 What is myotonic dystrophy?
1
Muscle symptoms and myotonic dystrophy
9
Looking ahead
15
Not just a muscle disease
21
Children with myotonic dystrophy
29
Family aspects and genetic risks
41
Advances in research
57
Support and information
65
Management and treatment
75
The futuretowards effective prevention and cure for myotonic dystrophy
85
Conclusion
95
Appendices
97
Bibliography
103
Index
109
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About the author (2002)

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 MedicalGenetics, 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 ethicalaspects 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

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