Duchenne muscular dystrophy / Alan E.H. Emery, Francesco Muntoni, Rosaline Quinlivan.

Format:

Book

Author/Creator:

Emery, Alan E. H., author.

Muntoni, Francesco (Paediatric neurologist), author.

Quinlivan, Rosaline, author.

Series:

Oxford monographs on medical genetics ; no. 67.

Oxford monographs on medical genetics ; 67

Language:

English

Subjects (All):

Duchenne muscular dystrophy.

Muscular Dystrophy, Duchenne--history.

Muscular Dystrophy, Duchenne--diagnosis.

Muscular Dystrophy, Duchenne--genetics.

Diagnosis, Differential.

Medical Subjects:

Muscular Dystrophy, Duchenne--history.

Muscular Dystrophy, Duchenne--diagnosis.

Muscular Dystrophy, Duchenne--genetics.

Diagnosis, Differential.

Physical Description:

ix, 308 pages : illustrations, portraits.

Edition:

Fourth edition.

Place of Publication:

Oxford : Oxford University Press, 2015.

Summary:

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 fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a through update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has 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, prental diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular, and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy. Book jacket.

Contents:

Symbols and abbreviations

1. Introduction to Duchenne muscular dystrphy

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

Appendix 1. Egen Klassifikation Scale Version 2 (EK2)

Appendix 2. The North Star Ambulatory Assessment

Appendix 3. Muscular dystrophy associations and groups in various countries (2013)

Index.

Notes:

Includes bibliographical references and index.

ISBN:

9780199681488

0199681481

OCLC:

899700782