Diagnostic Criteria for Neuromuscular Disorders

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Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics)

(Duchenne Muscular Dystrophy, an inherited and progressive...)

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 fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has 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 from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

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Muscular Dystrophy (The Facts Series)

(The muscular dystrophies are a group of genetic diseases ...)

The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this book answers many of the questions asked about how and why muscular dystrophy occurs, and how it will affect the life of a recently diagnosed child. As well as presenting the reader with advice and an explanation of muscular dystrophy, the book also guides the reader towards further information on societies and support groups around the world, and reliable internet resources. It also contains a full glossary to aid the reader in their understanding of the disease. The different types of muscular dystrophy are described throughout with a minimum of technical jargon. Questions relating to exercise, physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice is given on the problems of schooling and choice of career. Since publication of the first edition in 1994, the genes for almost all the different types of dystrophy have been identified, enabling prevention through genetic counselling, therefore relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness.

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The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease (Oxford Medical Histories)

(Duchenne Muscular Dystrophy is a disease that only affect...)

Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is charterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and dealth from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon's research which has led to our current understanding of the disease, will full refences and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics.

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Duchenne Muscular Dystrophy

(Duchenne Muscular Dystrophy, an inherited and progressive...)

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.

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Muscular Dystrophy: theFacts

(The muscular dystrophies are a group of genetic diseases ...)

The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new edition of Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise, physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention through genetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness. From reviews of 1st edition 'A family visiting a genetic counsellor readied with information from this book would be well versed in the scope of concerns that can arise as families live with MD. I applaud the effort to make this care package of information available to families.' The American Journal of Human Genetics.

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Duchenne Muscular Dystrophy (Oxford Mongraphs on Medical Genetics) 4th Edition by Emery, Alan E. H., Muntoni, Francesco, Quinlivan, Rosaline C (2015) Hardcover

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Duchenne Muscular Dystrophy (Oxford Mongraphs on Medical Genetics) Hardcover - April 26, 2015

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Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics) by Alan E. H. Emery (19-Feb-2015) Hardcover

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Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics) by Emery Alan E. H. (1987-06-11) Hardcover

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Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics)

(Based on the author's study of some 200 patients, and on ...)

Based on the author's study of some 200 patients, and on a detailed review of the literature, this volume examines all aspects of Duchenne muscular dystrophy--the second most common genetic disorder affecting humans. Topics include the history of the disease, clinical features, involvement of tissues other than muscle, laboratory investigations, differential diagnosis, biochemistry, pathogenesis, genetics, molecular pathology, prevention, genetic counselling, and surgical and medical management. The book is illustrated with numerous photographs and line drawings, and includes an extensive bibliography.

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Duchenne Muscular Dystrophy [HARDCOVER] [2003] [By Alan Emery]

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[(The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease)] [Author: Alan E. H. Emery] published on (April, 2011)

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