Duchenne Muscular DystrophyBased on the author's study of some 200 patients, and on a detailed review of the literature, this volume examines all aspects of Duchenne muscular dystrophy--the second most common genetic disorder affecting humans. Topics include the history of the disease, clinical features, involvement of tissues other than muscle, laboratory investigations, differential diagnosis, biochemistry, pathogenesis, genetics, molecular pathology, prevention, genetic counselling, and surgical and medical management. The book is illustrated with numerous photographs and line drawings, and includes an extensive bibliography. |
Contents
Introduction | 1 |
History of the disease | 8 |
Clinical features | 25 |
Copyright | |
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abnormalities activity affected boys appear associated autosomal Becker become blood calcium carrier cells cent changes child childhood clear clinical considerable considered controls course creatine deletion described detail detection determined diagnosis disease disorder Duchenne muscular dystrophy early Emery enzymes et al evidence expressed fact factor female Finally findings function further gene genetic genetic counselling given important incidence increased indicates individual involvement isolated kinase later least less limb locus male manifestations mean membrane methods mothers motor muscle fibres muscular atrophy mutation myopathy myosin normal observed occur onset parents particularly patients perhaps possible prenatal present probability problems progressive proportion protein reasons recent recessive reduced referred relatives reported result risk SCK levels seems serum severe significant skeletal muscle spinal stage studies suggested Table tion tissue usually various walking weakness X-chromosome X-linked