Duchenne muscular dystrophy, 3rd edn
http://www.100md.com
《神经病学神经外科学杂志》
Alan E H Emery, Francesco Muntoni. Oxford: Oxford University Press, 2003, pp 280, ￡79.50 (hardback). ISBN 0-19-851531-6
Quite simply, this monograph is essential reading for anybody involved with this devastating condition, and indeed for those involved with any form of muscular dystrophy, whether in the clinic or in the laboratory. Duchenne muscular dystrophy (DMD) is the archetypal dystrophy. It is because the clinical course is so stereotyped that it was the first of the dystrophies to be defined clearly, over a century ago. The historical journey from the first clinical descriptions to our present state of knowledge forms the core of this book, with side branches relevant to the identification of other specific forms of dystrophy, particularly the limb girdle dystrophies. The nihilist may suggest that all of this knowledge has as yet failed to find a cure, but for the clinicians intimately involved with these patients we can now do more than ever to provide an improved quality of life. There is of course great hope that "genetic engineering" will lead to a cure, but patients and their families cannot live on hope alone and Professors Emery and Muntoni have elegantly summarised present management options.
The second edition was published in 1986, a matter of months before the identification of the gene involved in the disease process and its protein product dystrophin. Within a few years it became apparent that dystrophin and dystrophin associated proteins have a fundamental role in various forms of muscular dystrophy, and for a while it looked as if there might be a common mechanism of membrane fragility due to dysfunction of these membrane associated proteins. Then abnormal cytosolic proteins were found in some forms of limb girdle dystrophy and it became clear that there was no simple single disease mechanism. Despite that, altered function of membrane proteins is clearly of fundamental importance in many dystrophies and Muntoni has been at the forefront of recent discoveries relating to altered glycosylation of the membrane protein -dystroglycan in various forms of congenital and adult onset limb girdle dystrophies.
There is no need to describe the individual chapters in detail. In brief, the monograph covers the history of the disease (Emery being a noted medical historian), clinical features, differential diagnosis, molecular pathology, pathogenesis, genetic counselling, and management. Emery is retired from clinical practice but the clinical setting is kept up to date by his being joined by Muntoni for this timely third edition.
All those involved in the management of DMD will find something of value in this book. Some patients and families may also want to dip into it. Those interested in the history of medicine, and the evolution of modern genetic and molecular techniques, will find it a fascinating story.
Let us hope that a fourth edition, detailing the successes of genetic engineering, will not be too far off, but in the meantime there is much that can be done to alleviate the consequences of this truly awful condition.(D Hilton-Jones)
Quite simply, this monograph is essential reading for anybody involved with this devastating condition, and indeed for those involved with any form of muscular dystrophy, whether in the clinic or in the laboratory. Duchenne muscular dystrophy (DMD) is the archetypal dystrophy. It is because the clinical course is so stereotyped that it was the first of the dystrophies to be defined clearly, over a century ago. The historical journey from the first clinical descriptions to our present state of knowledge forms the core of this book, with side branches relevant to the identification of other specific forms of dystrophy, particularly the limb girdle dystrophies. The nihilist may suggest that all of this knowledge has as yet failed to find a cure, but for the clinicians intimately involved with these patients we can now do more than ever to provide an improved quality of life. There is of course great hope that "genetic engineering" will lead to a cure, but patients and their families cannot live on hope alone and Professors Emery and Muntoni have elegantly summarised present management options.
The second edition was published in 1986, a matter of months before the identification of the gene involved in the disease process and its protein product dystrophin. Within a few years it became apparent that dystrophin and dystrophin associated proteins have a fundamental role in various forms of muscular dystrophy, and for a while it looked as if there might be a common mechanism of membrane fragility due to dysfunction of these membrane associated proteins. Then abnormal cytosolic proteins were found in some forms of limb girdle dystrophy and it became clear that there was no simple single disease mechanism. Despite that, altered function of membrane proteins is clearly of fundamental importance in many dystrophies and Muntoni has been at the forefront of recent discoveries relating to altered glycosylation of the membrane protein -dystroglycan in various forms of congenital and adult onset limb girdle dystrophies.
There is no need to describe the individual chapters in detail. In brief, the monograph covers the history of the disease (Emery being a noted medical historian), clinical features, differential diagnosis, molecular pathology, pathogenesis, genetic counselling, and management. Emery is retired from clinical practice but the clinical setting is kept up to date by his being joined by Muntoni for this timely third edition.
All those involved in the management of DMD will find something of value in this book. Some patients and families may also want to dip into it. Those interested in the history of medicine, and the evolution of modern genetic and molecular techniques, will find it a fascinating story.
Let us hope that a fourth edition, detailing the successes of genetic engineering, will not be too far off, but in the meantime there is much that can be done to alleviate the consequences of this truly awful condition.(D Hilton-Jones)