Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

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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.
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Product details

  • Hardback | 282 pages
  • 161 x 240 x 19mm | 615g
  • Oxford, United Kingdom
  • English
  • Revised
  • 3rd Revised edition
  • numerous halftones and line drawings
  • 0198515316
  • 9780198515319

Table of contents

1. Introduction ; 2. History of the disease ; 3. Clinical features ; 4. Confirmation of the diagnosis ; 5. Differential diagnosis ; 6. Involvement of tissues other than skeletal muscle ; 7. Biochemistry of Duchenne muscular dystrophy ; 8. Genetics ; 9. Molecular pathology ; 10. Pathogenesis ; 11. Prevention ; 12. Genetic counselling ; 13. 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
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Review quote

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. Human Genetics, 115 This book is for all individuals who participate in the care of a boy with DMD, regardless of the discipline involved. I think it should be rated as a guide or reference book to be kept at hand at all times. European Journal of Paediatric Neurology, Vol 8, No 5 ... [a] reference book to be kept to hand at all times. European Journal of Paediatric Neurology, Vol 8, No 5 Both these authors have huge clinical experience and scientific knowledge and this shines through in the text ... This book is a classic of clinical neurology combining science and art. It will certainly be enjoyed by everyone in the team caring for families with DMD. Journal of Neurology, 251 Duchenne muscular dystrophy deserves continuing detailed discussion in such a monograph, as it is a paradigm for understanding and investigating molecular genetic disorders, and as it has such far-reaching effects on the child and family. This book's span and clarity should recommend it to all those involved in the multidisciplinary care of boys with Duchenne muscular dystrophy, and to their families too. One hopes that it should be accessible and available to those professionals who first see these boys and on whom we depend first to suspect the diagnosis. Neuromuscular Disorders, 14 This book is extremely comprehensive ... Such a practical and comprehensive book will not only be useful for lawyers acting for children, but also for the families affected by Duchenne Muscular Dystrophy, social workers, parents and carers. Association of Lawyers for Children Newsletter, Issue 29 ... lucid writing ... This book's span and clarity should recommned it to all those involved in the multidisciplinary care of boys with Duchenne muscular dystrophy, and to their families too. Neuromuscular Disorders
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About Alan E. H. Emery

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.
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