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VIII.93 - Muscular Dystrophy

from Part VIII - Major Human Diseases Past and Present

Published online by Cambridge University Press:  28 March 2008

Kenneth F. Kiple
Affiliation:
Bowling Green State University, Ohio
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Summary

The muscular dystrophies are a group of genetically determined, almost exclusively pediatric diseases. Generally, the earlier the age at which symptoms begin, the poorer is the prognosis. Because of a considerable overlap of manifestations and rates of progression and, until recently, the lack of any biochemical test, their classification is still unsettled. As a group, the principal differential diagnosis of the muscular dystrophies is from the muscular atrophies. In the former, the primary defect is in the voluntary muscle fibers; in the latter, it is in the innervation of muscles.

Classification

The most common of the dystrophies and the first to be described was that delineated by Guillaume B. A. Duchenne, a French neurologist, in 1868. Duchenne muscular dystrophy (DMD) is a sex-linked recessive disorder. Consequently, it clinically affects only males and is inherited through female carriers of the gene. Although affected boys have abnormally elevated concentrations of muscle cell enzymes such as creatine phosphokinase in their blood, this abnormality is also found in about three-fourths of the asymptomatic female carriers. DMD appears to have a rather uniform incidence worldwide, with a mean incidence estimated to be about 1 case per 4,000 live male births, or 15 to 33 cases per 100,000. Most surveys have been of predominantly Caucasian populations, but the results of a study in Japan were consistent with the others. A family history of DMD can be obtained in only about one-third of cases. The others are attributed to either a previously unexpressed carrier state or to a new mutation.

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Publisher: Cambridge University Press
Print publication year: 1993

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References

Drummond, L. M. 1979. Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Archives of Disease in Childhood 54.CrossRefGoogle ScholarPubMed
Emery, A. E. 1980. Duchenne muscular dystrophy: Genetic aspects, carrier detection and antenatal diagnosis. British Medical Bulletin 36.CrossRefGoogle ScholarPubMed
Gardner-Medwin, D. 1980. Clinical features and classification of the muscular dystrophies. British Medical Bulletin 36.CrossRefGoogle ScholarPubMed
Hoffman, E. P., et al. 1988. Characterization of dystrophin in muscle biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy. New England Journal of Medicine 318.CrossRefGoogle ScholarPubMed
Hyser, C. L., and Mendell, J. R.. 1988. Recent advances in Duchenne and Becker muscular dystrophy. Neurologic Clinics 6.CrossRefGoogle ScholarPubMed
Kakulas, B. A., and Adams, R. D.. 1985. Diseases of muscle, 4th edition. Philadelphia.Google Scholar
Kazadov, V. M., et al. 1974. The facio-scapulo-limb (or the facioscapulohumeral) type of muscular dystrophy: Clinical and genetic study of 200 cases. European Neurology 11.Google Scholar
Leth, A., et al. 1985. Progressive muscular dystrophy in Denmark. Acta Paediatrica Scandinavica 74.CrossRefGoogle ScholarPubMed
Tangsrud, S. E. 1989. Child neuromuscular disease in southern Norway: The prevalence and incidence of Duchenne muscular dystrophy. Acta Paediatrica Scandinavica 78.CrossRefGoogle ScholarPubMed

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  • Muscular Dystrophy
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.155
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  • Muscular Dystrophy
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.155
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Muscular Dystrophy
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.155
Available formats
×