Duchenne muscular dystrophy

著者

書誌事項

Duchenne muscular dystrophy

Alan E.H. Emery, Francesco Muntoni

Oxford University Press, 2003

3rd ed

  • : hard

大学図書館所蔵 件 / 全4件

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注記

Includes index

内容説明・目次

内容説明

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this third edition of the classic monograph on the topic, Alan Emery is joined by Francesco Muntoni, Professor of Paediatric Neurology, to provide a thorough update on all aspects of the disorder. Identification of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin have led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and management. Although there is still no cure for the disorder, there have been significant developments in understanding the progression of the disease, and advances in the management of respiratory and cardiac complications. Emery and Muntoni also explore and speculate on the possibilities for future treatments employing drugs and gene therapies. This book will appeal not only to scientists and clinicians, but also to a wide range of therapists and other professionals involved in the care of patients with muscular dystrophy.

目次

  • 1. Introduction
  • 2. History of the disease
  • 3. Clinical features
  • 4. Confirmation of the diagnosis
  • 5. Differential diagnosis
  • 6. Involvement of tissues other than skeletal muscle
  • 7. Biochemistry of Duchenne muscular dystrophy
  • 8. Genetics
  • 9. Molecular pathology
  • 10. Pathogenesis
  • 11. Prevention
  • 12. Genetic counselling
  • 13. Management
  • Appendices
  • A Duchenne's obituary
  • B MRC grading of muscle strength
  • C Swinyard grade
  • D Vignos grade
  • E Hammersmith motor ability score
  • F Clinical investigation of Duchenne dystrophy (CIDD) group
  • G Polymorphisms in the dystrophin gene
  • H Muscular dystrophy associations and groups in various countries

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