Duchenne Muscular Dystrophy

by Emery, Alan; Muntoni, Francesco

• ISBN13: 9780198515319
• ISBN10: 0198515316
• Edition: 3rd
• Format: Hardcover
• Copyright: 2003-10-23
• Publisher: Oxford University Press

Summary

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this third edition of the classic monograph on the topic, Alan Emery is joined by Francesco Muntoni, Professor of Paediatric Neurology, to provide a thorough update on all aspects of the disorder. Identification of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin have led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and management. Although there is still no cure for the disorder, there have been significant developments in understanding the progression of the disease, and advances in the management of respiratory and cardiac symptoms. Emery and Muntoni also explore and speculate on the possibilities for future treatments employing drugs and gene therapies. This book will appeal not only to scientists and clinicians, but also to a wide range of therapists and other professionals involvd in the care of patients with muscular dystrophy.

Author Biography

Alan Emery is Emeritus Professor of Human Genetics and has authored or edited 18 books on medical genetics and neuromuscular disease, including the classics Emery's Elements of Medical Genetics, now in its 10th edition, and Emery and Remoin's Principles and Practice of Medical Genetics. Francesco Muntoni is Professor of Paediatric Neurology at the Dubowitz Neuromuscular Centre in London. Professor Muntoni has an extensive list of publications in the field of neuromuscular disorders and ongoing active research interest in molecular aspects of DMD.

Table of Contents

List of abbreviations	ix
1 Introduction	1	(5)
2 History of the disease	6	(20)
3 Clinical features	26	(20)
4 Confirmation of the diagnosis	46	(30)
5 Differential diagnosis	76	(18)
6 Involvement of tissues other than skeletal muscle	94	(17)
7 Biochemistry of Duchenne muscular dystrophy	111	(20)
8 Genetics	131	(9)
9 Molecular pathology	140	(19)
10 Pathogenesis	159	(14)
11 Prevention	173	(26)
12 Genetic counselling	199	(8)
13 Management	207	(40)
Appendices
A Duchenne's obituary	247	(2)
B MRC grading of muscle strength	249	(1)
C Swinyard grade	250	(1)
D Vignos grade	251	(1)
E Hammersmith motor ability score	252	(2)
F Clinical investigation of Duchenne dystrophy (CIDD) group	254	(1)
G Polymorphisme in the dystrophin gene	255	(2)
H Muscular dystrophy associations and groups in various countries	257	(6)
Index	263