Use of creatine kinase for detecting severe X-linked muscular dystrophy carriers.

N R Dennis, K Evans, B Clayton, C O Carter
Author Information

Abstract

Women thought to be at risk of being carriers of Duchenne muscular dystrophy were given "odds" against their having an affected child. These were calcuated from a combination of the genetic risk from the family history and an estimation of the biochemical risk from measuring the serum creatine kinase concentration. The women were told the actual risk estimate and it was put into perspective for them as a high, medium, or low risk. Of 25 women at high risk six have had children, all girls; the two in the medium-risk group have had no children; and the 46 women at low risk have had 19 boys and 25 girls. None of the boys has the disease. With detailed counselling most potential carriers of this disease reach decisions in child bearing that are in line with their degree of risk.

References

  1. Am J Hum Genet. 1963 Jun;15(2):133-54 [PMID: 17948483]
  2. Br Med J. 1965 Mar 20;1(5437):750-3 [PMID: 14248444]
  3. J Neurol Sci. 1969 May-Jun;8(3):579-87 [PMID: 4185251]
  4. Lancet. 1971 Apr 24;1(7704):855-6 [PMID: 4102542]
  5. Clin Genet. 1972;3(2):147-50 [PMID: 5054316]

MeSH Term

Creatine Kinase
Female
Genetic Counseling
Humans
Male
Muscular Dystrophies
Pregnancy
Risk
Sex Chromosomes

Chemicals

Creatine Kinase

Word Cloud

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