Duchenne muscular dystrophy
Author(s)
Bibliographic Information
Duchenne muscular dystrophy
（Oxford monographs on medical genetics, no. 24）（Oxford medical publications）
Oxford University Press, 1993
2nd ed
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Note
Includes bibliographical references (p. [310]-379) and index
Description and Table of Contents
Description
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.
Table of Contents
- 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.
by "Nielsen BookData"
