Myotonic Dystrophy: Present management, future therapy

Hardcover | May 26, 2004

EditorPeter Harper, Baziel van Engelen, Bruno Eymard

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This book provides a full and practical account of management of myotonic dystrophy, the commonest muscular dystrophy of adult life and a condition of exceptional variability. Written for neurologists, clinical geneticists and other clinical specialities involved with the disorder, it deals with both the neurological aspects and also the wide range of systemic complications that may occur. In addition it provides details of information and support available to patientsand families and gives a summary of the present state of clinical trials of therapeutic agents. These sections are preceded by general introductory chapters describing both the clinical features and also the current state of research into understanding the underlying mechanisms.

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This book provides a full and practical account of management of myotonic dystrophy, the commonest muscular dystrophy of adult life and a condition of exceptional variability. Written for neurologists, clinical geneticists and other clinical specialities involved with the disorder, it deals with both the neurological aspects and also ...

Peter Harper is a Professor and Consultant in Medical Genetics, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff. Baziel van Engelen is in the Department of Neurology, University of Nijmegen, The Netherlands. Bruno Eymard is at La Salpetriere Hospital, Paris. Douglas Wilcox is at University of Glasgow.

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Format:HardcoverDimensions:264 pages, 9.21 × 6.14 × 0.74 inPublished:May 26, 2004Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0198527829

ISBN - 13:9780198527824

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Table of Contents

Section 1 - Introduction: Clinical and biological basis of myotonic dystrophy1. Peter Harper: Myotonic dystrophy: a multi-systemic disorder2. Tetsua Ashizawa and Darren Monckton: Molecular aspects of myotonic dystrophy: our current understandingSection 2 - Neuromuscular management of myotonic dystrophy3. Giovanni Meola and David Hilton-Jones: Diagnosis and baseline investigation: a core protocol4. Bruno Eymard and I Dobon: Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it5. Mark Rogers and Jean Mathieu: Follow up and assessment protocols for myotonic dystrophy6. Jean Mathieu and Margaret Phillips: Physical disability in myotonic dystrophySection 3 - Characterisation and management of systemic aspects7. Denis Duboc, Bruno Eymard and Maxwell Damian: Cardiac management of myotonic dystrophy8. Mark Rogers and Paul Clyburn: Anaesthesia and myotonic dystrophy9. Margaret Phillips: Respiratory problems in myotonic dystrophy and their management10. Baziel van Engelen and Han Brunner: Gastrointestinal dysfunction in myotonic dystrophy11. Asa Johannson and Tommy Olsson: Endocrine changes in myotonic dystrophy12. David Hilton-Jones, Maxwell Damian and Giovanni Meola: Somnolence and its managementSection 4 - Special aspects of management13. Sabine Rudnik and Christine de Die-Smulders: Pregnancy and perinatal problems in myotonic dystrophy14. Christine de Die-Smulders: Congenital and childhood-onset myotonic dystrophy15. Peter Harper and Han Brunner: Genetic counselling and genetic testing in myotonic dystrophySection 5 - Information and support16. Douglas Wilcox: Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy17. Shannon Lord: Support groups for myotonic dystrophy and their role: an American family perspectiveSection 6 - Therapeutic trials and future advances18. Charles Thornton, Richard Moxley and Robert Griggs: Therapeutic trials and future advances