Duchenne Muscular DystrophyDuchenne 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 thorough 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, prenatal 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. |
Contents
1 | |
6 | |
3 Clinical features | 29 |
4 Confirmation of the diagnosis | 52 |
5 Differential diagnosis | 82 |
6 Involvement of tissues other than skeletal muscle | 98 |
7 Biochemistry of Duchenne muscular dystrophy | 117 |
8 Genetics | 138 |
10 Pathogenesis | 169 |
11 Prevention | 185 |
12 Genetic counselling | 213 |
13 Management | 222 |
Appendix 1 Egen Klassifikation Scale Version 2 EK2 | 276 |
Appendix 2 The North Star Ambulatory Assessment | 281 |
Appendix 3 Muscular Dystrophy Associations and Groups in Various Countries 2013 | 288 |
299 | |
Other editions - View all
Duchenne Muscular Dystrophy Alan E. H. Emery,Francesco Muntoni,Rosaline C. M. Quinlivan Limited preview - 2015 |
Duchenne Muscular Dystrophy Alan E. H. Emery,Francesco Muntoni,Rosaline Quinlivan Limited preview - 2015 |
Common terms and phrases
abnormal activity affected boys Ambulant DMD assessment boys with DMD calcium cardiac cardiomyopathy carrier detection child children with DMD chromosome clinical contractures corticosteroids creatine deficiency deflazacort deletion disease DMD and BMD DMD boys DMD patients Duchenne muscular dystrophy dystrophic muscle dystrophin dystrophin gene dystrophin-deficient early Email Emery AEH exon expression female fetal fetus function genetic counselling Glycosyltransferase Gowers increased involvement isoforms kinase LGMD type locus markers mdx mice membrane molecular mother Muntoni muscle biopsy muscle fibres muscle tissue muscle weakness Muscular Dystrophy Association mutation rate myoblasts myopathy necrosis Neuromuscular Disorders normal onset parents phenotype possible prednisone prenatal diagnosis probe problems progressive protein randomized regeneration respiratory RFLP risk sarcolemma satellite cells SCK levels scoliosis screening sequences serum significant skeletal muscle spinal stages studies surgery syndrome Table technique tion trials utrophin various Website wheelchair whilst X chromosome X-inactivation X-linked