Alan E. H. Emery – författare

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.

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.

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.

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.

The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity.This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal diagnostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contractures, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy.Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.

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 characterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and death 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, with full references 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.

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.

Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.