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Neuromuscular Diseases

A Practical Approach to Diagnosis and Management

  • Michael Swash
  • Martin S. Schwartz

Table of contents

  1. Front Matter
    Pages i-xviii
  2. Michael Swash, Martin S. Schwartz
    Pages 1-17
  3. Michael Swash, Martin S. Schwartz
    Pages 43-68
  4. Michael Swash, Martin S. Schwartz
    Pages 69-84
  5. Michael Swash, Martin S. Schwartz
    Pages 85-87
  6. Michael Swash, Martin S. Schwartz
    Pages 89-120
  7. Michael Swash, Martin S. Schwartz
    Pages 121-132
  8. Michael Swash, Martin S. Schwartz
    Pages 133-160
  9. Michael Swash, Martin S. Schwartz
    Pages 161-172
  10. Michael Swash, Martin S. Schwartz
    Pages 173-200
  11. Michael Swash, Martin S. Schwartz
    Pages 201-255
  12. Michael Swash, Martin S. Schwartz
    Pages 257-283
  13. Michael Swash, Martin S. Schwartz
    Pages 285-306
  14. Michael Swash, Martin S. Schwartz
    Pages 307-341
  15. Michael Swash, Martin S. Schwartz
    Pages 343-362
  16. Michael Swash, Martin S. Schwartz
    Pages 363-375
  17. Michael Swash, Martin S. Schwartz
    Pages 377-413
  18. Michael Swash, Martin S. Schwartz
    Pages 415-424
  19. Michael Swash, Martin S. Schwartz
    Pages 425-432
  20. Michael Swash, Martin S. Schwartz
    Pages 433-440
  21. Michael Swash, Martin S. Schwartz
    Pages 441-449
  22. Back Matter
    Pages 451-541

About this book

Introduction

Nine years have elapsed since the second edition of this book was published. In this time the principal advances in neuromuscular diseases have been in the application of molecular genetics to understanding the aetiology and pathogenesis of this group of disorders. As a result many previously unrecognised disorders have been charac­ terised. Some clinical syndromes, such as the limb girdle dystrophies, have become better defined. In many such instances the new genetic information has led to major advances in knowledge of the biology of cell structures, for example, the membrane structural and channel proteins. The clinical syndromes themselves, and their patho­ logical and electrophysiological characteristics, however, remain as important as ever, since they constitute the clinical problem itself and, indeed, the database from which all other concepts emerge. Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. However, this informa­ tion does not necessarily always define clinically useful syndromes. Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un­ detectable by clinical examination, although the phenomenon itself was originally defined as a clinical entity. The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under­ lying defect in cell structural proteins.

Keywords

assessment biopsie biopsy childhood classification diagnosis diseases inflammation management muscle nutrition patients research syndromes

Authors and affiliations

  • Michael Swash
    • 1
  • Martin S. Schwartz
    • 2
    • 3
  1. 1.St. Bartholomew’s and The Royal London Hospital School of Medicine and Dentistry at Queen Mary Westfield College, and The Royal London HospitalLondonUK
  2. 2.Atkinson Morley’s HospitalLondonUK
  3. 3.St George’s HospitalLondonUK

Bibliographic information