Duchenne Muscular Dystrophy
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Product details:
- Edition number 3
- Publisher OUP Oxford
- Date of Publication 4 September 2003
- ISBN 9780198515319
- Binding Hardback
- No. of pages282 pages
- Size 240x161x19 mm
- Weight 615 g
- Language English
- Illustrations numerous halftones and line drawings 0
Categories
Short description:
In this third edition of the classic monograph on Duchenne Muscular Dystrophy, Alan Emery is joined by Francesco Muntoni to provide an update on the molecular basis of the disorder, the implications for genetic counselling and prenatal diagnosis, as well as advances in the care of affected children and new possibilities in gene therapy.
MoreLong description:
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 complications. 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 involved in the care of patients with muscular dystrophy.
Over the past 20 years or so Alan E.H. Emery's monograph has been an indispensable introduction into the theme for the novice and a reliable reference book for the expert . . . the third edition . . . clearly benefits from the complementing expertise of its authors - a medical geneticist who has witnessed most of the clinical improvements and all of the basic molecular findings of the past decades and a child neurologist who runs one of the largest neuro-paediatric units in Europe.
The historical attempts to understand this complex disease are well-presented and set the stage for our current - still fragmentary - understanding. This is complemented with clinical data from own observation and with paradigmatic photographs.
The book can be highly recommended further on as a comprehensive introduction to every clinician who is confronted with muscular dystrophy patients and any geneticist who wants to study one of the most multifarious genetic disorders.
Table of Contents:
Introduction
History of the disease
Clinical features
Confirmation of the diagnosis
Differential diagnosis
Involvement of tissues other than skeletal muscle
Biochemistry of Duchenne muscular dystrophy
Genetics
Molecular pathology
Pathogenesis
Prevention
Genetic counselling
Management
Appendices
A Duchenne's obituary
B MRC grading of muscle strength
C Swinyard grade
D Vignos grade
E Hammersmith motor ability score
F Clinical investigation of Duchenne dystrophy (CIDD) group
G Polymorphisms in the dystrophin gene
H Muscular dystrophy associations and groups in various countries
