Myotonic Dystrophy Present Management, Future Therapy

by Harper, Peter S.; van Engelen, Baziel G. M.; Eymard, Bruno; Wilcox, Douglas E.

• ISBN13: 9780198527824
• ISBN10: 0198527829
• Format: Hardcover
• Copyright: 2004-03-11
• Publisher: Oxford University Press

Summary

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.

Table of Contents

Preface	vii
Acknowledgements	x
Contributors	xi
Section 1 Introduction: clinical and biological basis of myotonic dystrophy
Myotonic dystrophy: a multisystemic disorder	3	(11)
Peter S. Harper
Molecular aspects of myotonic dystrophy: our current understanding	14	(25)
Darren G. Monckton
Tetsuo Ashizawa
Section 2 Neuromuscular management of myotonic dystrophy
Diagnosis and baseline investigation in myotonic dystrophy: a core protocol	39	(10)
Giovanni Meola
David Hilton-Jones
Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it	49	(9)
Bruno Eymard
I. Dobon
Follow-up and assessment protocols for myotonic dystrophy	58	(10)
Mark T. Rogers
Jean Mathieu
Physical disability in myotonic dystrophy	68	(17)
Margaret F. Phillips
Jean Mathieu
Section 3 Characterization and management of systemic aspects
Cardiac management of myotonic dystrophy	85	(9)
Denis Duboc
Bruno Eymard
Maxwell S. Damian
Anaesthesia and myotonic dystrophy	94	(10)
Mark T. Rogers
Paul A. Clyburn
Respiratory problems in myotonic dystrophy and their management	104	(9)
Margaret F. Phillips
Gastrointestinal dysfunction in myotonic dystrophy	113	(13)
Baziel G. M. van Engelen
Han G. Brunner
Endocrine changes in myotonic dystrophy	126	(9)
Asa Johansson
Tommy Olsson
Somnolence and its management	135	(18)
David Hilton-Jones
Maxwell Damian
Giovanni Meola
Section 4 Special aspects of management
Pregnancy and perinatal problems in myotonic dystrophy	153	(9)
Sabine Rudnik-Schoneborn
Christine de Die-Smulders
Congenital and childhood-onset myotonic dystrophy	162	(14)
Christine de Die-Smulders
Genetic counselling and genetic testing in myotonic dystrophy	176	(17)
Peter S. Harper
Han G. Brunner
Section 5 Information and support
Sharing information, knowledge and experience to build a team to help manage myotonic dystrophy	193	(15)
Douglas E. Wilcox
Margaret Bowler
Support groups for myotonic dystrophy and their role: an American family perspective	208	(11)
Shannon Miller Lord
Section 6 Therapeutic trials and future advances
Therapeutic trials and future advances	219	(22)
Richard T. Moxley III
Shree Pandya
Charles A. Thornton
Robert C. Griggs
Index	241