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Myotonic Dystrophy
Present management, future therapy
Edited by Peter Harper, Baziel van Engelen, Bruno Eymard, and Douglas Wilcox
264 pages
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numerous tables and figures
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234x156mm
978-0-19-852782-4
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Hardback
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15 January 2004
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This item is printed to order and supplied on a firm sale basis. Items which are printed to order are normally despatched and charged within 5-10 days.
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- Offers a practical approach to patient management
- Covers both neurological and systemic aspects
- Stresses social aspects
- Emphasises practical genetic management
- Accessible to non-specialists as well as experts
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 patients and 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.
Readership: Clinical neurologists, clinical geneticists and others involved with muscle disease
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Edited by Peter Harper, Professor and Consultant in Medical Genetics, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, Baziel van Engelen, Department of Neurology, University of Nijmegen, The Netherlands, Bruno Eymard, Department of Neurology, La Salpetriere Hospital, Paris, France, and Douglas Wilcox, Scottish Muscle Centre, University of Glasgow, Glasgow, Scotland Contributors:
Tetsua Ashizawa, Dept of Neurology, The University of Texas Medical Branch, Texas, USA
Han Brunner, Dept of Human Genetics, University Medical Center, Nijmegen, The
Netherlands
Paul Clyburn, Institue of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Maxwell Damian, Centre for Neurosciences, University of Melbourne, Australia
Christine de Die-Smulders, Academic Hosptial Maastricht, The Netherlands
I Dobos
Denis Duboc, Dept of Cardiology, Universit Rene Descartes, Paris, France
Bruno Eymard, Institut de Myologie, Paris, France
Robert Griggs, Dept of Neurology, Univeristy of Rochester, Rochester, USA
Peter Harper, Institute of Medical Genetics, University of Wales College of Medicine, Cardiff
David Hilton-Jones, Dept of Neurology, Radcliffe Infirmary, Oxford
Asa Johannson,Dept of PUblic Health and Clinical
Medicine, Umea University Hospital, Sweden
Shannon Lord, Atlanta, USA
Jean Mathieu, Clinique des Maladies Neuromusculaires, Jonquuiere, Canada
Giovanni Meola, Universita di Milano, Italy
Darren Monckton, Insitute of Biomedical & Life Sciences, Glasgow
Richard Moxley, Dept of Neurology, University of Rochester, Rochester, USA
Tommy Olsson, Dept of Medicine, Umea Unversity Hospital, Umea, Sweden
Margaret Phillips, University of Nottingham Rehabilitation Research Unit, Derby
Mark Rogers, Institute of Medical Genetics, UNiversity of Wales College of Medicine, Cardiff
Sabine Rudnik, Institute for Human Genetics, University of Technology, Aachen, Germany
Charles Thornton, Dept
of Neurology, Univeristy of Rochester, USA
Baziel van Engelen, Institute of Neurology, University Medical Centre Nijmegen, The Netherlands
Douglas Wilcox, Dept of Medical Genetics, Univeristy of Glasgow, Glasgow
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"The book is academically very good and written in a practical way that both patients and doctors will find useful...I can recommend the book, not only for patients but also for such doctors in general practice." - The Journal of the Norwegian Medical Association "This book written by the main world experts in the field is a practical outline for both the clinicians and families. I strongly recommend it." - European Journal of Paediatric Neurology, Vol 10 ". . . illustrates all the various clinical aspects of this complex disease and gives insight into the pathogenesis and possibilities of the management of each complication at the different stages of myotonic dystrophy. The completeness of the data
presented in each chapter is imporessive. The chapters are well structured and the illustrations are clear and informative. The flow charts are adequately structured and easy to understand. The references are well-selected and up-to-date. All chapters are written by renowned experts in the field of the myotonic dystrophies and neuromuscular diseases. It is a most educative book for clinicians working in the field of the neuromuscular diseases and for geneticists responsible for the genetic counselling of patients with myotonic dystrophy." - Human Genetics ". . . a book that offers a wealth of up-to-date, practical and relevant information. Reflecting the central role of neuromuscular assessment and clinical management issues, this book is to be recommended
as an essential reference for every neurologist involved in the care of patients with myotonic dystrophy." - Neuromuscular Disorders, 14
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Section 1 - Introduction: Clinical and biological basis of myotonic dystrophy
1: Peter Harper: Myotonic dystrophy: a multi-systemic disorder
2: Tetsua Ashizawa and Darren Monckton: Molecular aspects of myotonic dystrophy: our current understanding
Section 2 - Neuromuscular management of myotonic dystrophy
3: Giovanni Meola and David Hilton-Jones: Diagnosis and baseline investigation: a core protocol
4: Bruno Eymard and I Dobon: Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it
5: Mark Rogers and Jean Mathieu: Follow up and assessment protocols for myotonic dystrophy
6: Jean Mathieu and Margaret Phillips: Physical disability in myotonic dystrophy
Section 3 - Characterisation and management of systemic aspects
7: Denis Duboc, Bruno Eymard and Maxwell Damian: Cardiac management of myotonic dystrophy
8: Mark Rogers and Paul Clyburn: Anaesthesia and myotonic dystrophy
9: Margaret Phillips: Respiratory problems in myotonic dystrophy and their management
10: Baziel van Engelen and Han Brunner: Gastrointestinal dysfunction in myotonic dystrophy
11: Asa Johannson and Tommy Olsson: Endocrine changes in myotonic dystrophy
12: David Hilton-Jones, Maxwell Damian and Giovanni Meola: Somnolence and its management
Section 4 - Special aspects of management
13: Sabine Rudnik and Christine de Die-Smulders: Pregnancy and perinatal problems in myotonic dystrophy
14: Christine de Die-Smulders: Congenital and childhood-onset myotonic dystrophy
15: Peter Harper and Han Brunner: Genetic counselling and genetic testing in myotonic dystrophy
Section 5 - Information and support
16: Douglas Wilcox: Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy
17: Shannon Lord: Support groups for myotonic dystrophy and their role: an American family perspective
Section 6 - Therapeutic trials and future advances
18: Charles Thornton, Richard Moxley and Robert Griggs: Therapeutic trials and future advances
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The specification in this catalogue, including without limitation price, format, extent, number of illustrations, and month of publication, was as accurate as possible at the time the catalogue was compiled. Occasionally, due to the nature of some contractual restrictions, we are unable to ship a specific product to a particular territory. Jacket images are provisional and liable to change before publication.
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