Oxford Medical Histories: History Of A Genetic Disease, The

Description:
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.

Table of Contents:
Preface; 1. The history of Muscular Dystrophy: a unique story; 2. Early history of Muscular Dystrophy; 3. Edward Meryon's contribution to Muscular Dystrophy; 4. The life of Edward Meryon (1807-1880); 5. Duchenne de Boulogne (1806-1875); 6. Refining the clinical picture; 7. Resolution of heterogeneity; 8. Nosology of the Dystrophies; 9. Recognition of other types of Muscular Dystrophy; 10. Biochemical diagnosis and carrier detection; 11. Pathogenesis of Duchenne dystrophy; 12. The search for the gene; 13. Current trends and the future