Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics)

This is the second edition of a highly acclaimed monograph. It is currently the only book which considers Duchenne Muscular Dystrophy (DMD) in detail and critically evaluates the extensive published literature. The author draws on his extensive clinical experience and scientific knowledge to provide an account of one of the most common inherited diseases. After a brief historical introduction, he describes the clinical features of the disease, emphasizing the involvement of tissues other than skeletal muscle. The biochemistry, genetics, and molecular pathology are discussed in the context of recent research findings, building a picture of the role of dystrophin in the pathogenesis of the disease. Prevention through neonatal screening, carrier detection, genetic counseling, and prenatal diagnosis is covered extensively, stressing the importance of DNA markers and gene probes. Finally, the book discusses the management of patients with the disease and the possibilities for treatment, which include surgical correction of deformities, new drug treatments, the prospects for myoblast transfer, and the possibilities for gene therapy.