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
Available at 6 libraries
  Aomori
  Iwate
  Miyagi
  Akita
  Yamagata
  Fukushima
  Ibaraki
  Tochigi
  Gunma
  Saitama
  Chiba
  Tokyo
  Kanagawa
  Niigata
  Toyama
  Ishikawa
  Fukui
  Yamanashi
  Nagano
  Gifu
  Shizuoka
  Aichi
  Mie
  Shiga
  Kyoto
  Osaka
  Hyogo
  Nara
  Wakayama
  Tottori
  Shimane
  Okayama
  Hiroshima
  Yamaguchi
  Tokushima
  Kagawa
  Ehime
  Kochi
  Fukuoka
  Saga
  Nagasaki
  Kumamoto
  Oita
  Miyazaki
  Kagoshima
  Okinawa
  Korea
  China
  Thailand
  United Kingdom
  Germany
  Switzerland
  France
  Belgium
  Netherlands
  Sweden
  Norway
  United States of America
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"