Duchenne Muscular Dystrophy
Seiten
1993
|
2nd Revised edition
Oxford University Press (Verlag)
978-0-19-262370-6 (ISBN)
Oxford University Press (Verlag)
978-0-19-262370-6 (ISBN)
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Incorporating findings in molecular genetics and reviewing their significance for the clinician, this book provides an account of the clinical features of the disease, its management and its treatment and reviews the possibilities for prevention based on screening and genetic counselling.
This is the second edition of a book which considers Duchenne muscular dystrophy (DMD) in detail and critically evaluates the published literature. The author draws on his clinical experience and scientific knowledge to provide an account of one of the most common inherited diseases. After a brief historical introduction, the author describes the clinical features of the disease in detail, 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 counselling and prenatal diagnosis is covered, 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 prospect for myoblast transfer and the possibilities for gene therapy.
This is the second edition of a book which considers Duchenne muscular dystrophy (DMD) in detail and critically evaluates the published literature. The author draws on his clinical experience and scientific knowledge to provide an account of one of the most common inherited diseases. After a brief historical introduction, the author describes the clinical features of the disease in detail, 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 counselling and prenatal diagnosis is covered, 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 prospect for myoblast transfer and the possibilities for gene therapy.
History of the disease; clinical features; confirmation of the diagnosis; differential diagnosis; involvement of tissues other than skeletal muscle; biochemistry of Duchenne muscular dystrophy; pathogenesis; genetics; molecular pathology; prevention; genetic counselling; management. Appendices: Duchenne's obituary; MRC grading of muscle strength; Swinyard grade; Vignos grade; Hammersmith motor ability score; CIDD group grade; muscular dystrophy associations and groups in various countries.
| Erscheint lt. Verlag | 1.4.1993 |
|---|---|
| Reihe/Serie | Oxford Monographs on Medical Genetics ; No.24 |
| Zusatzinfo | halftones, line drawings, tables, bibliography |
| Verlagsort | Oxford |
| Sprache | englisch |
| Maße | 156 x 234 mm |
| Gewicht | 804 g |
| Themenwelt | Medizinische Fachgebiete ► Chirurgie ► Unfallchirurgie / Orthopädie |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie | |
| Studium ► 1. Studienabschnitt (Vorklinik) ► Anatomie / Neuroanatomie | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Studium ► Querschnittsbereiche ► Prävention / Gesundheitsförderung | |
| ISBN-10 | 0-19-262370-2 / 0192623702 |
| ISBN-13 | 978-0-19-262370-6 / 9780192623706 |
| Zustand | Neuware |
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