A genetic study of Duchenne muscular dystrophy in West Midlands.

S Bundey
Author Information

Abstract

A study of Duchenne muscular dystrophy has shown an approximate prevalence of the disease among schoolboys to be 1 in 4000. Fifty-four families were available for genetic studies. In 19 families there were further affected cases and in 34 families the index patients was an isolated case. The proportion of affected brothers was 0.22 (11 of 50). There were 142 female relatives who had a risk of 1 in 10 or worse of being carriers: 66 of these were aged under 16. As genetic counselling is being increasingly requested by these families, and expansion of genetic services is envisaged. A genetic register, with frequent contact with families by ancillary staff, similar to that in Edinburgh, is considered desirable for the West Midlands.

References

  1. J Neurol Sci. 1969 May-Jun;8(3):579-87 [PMID: 4185251]
  2. J Med Genet. 1970 Dec;7(4):334-7 [PMID: 5501697]
  3. Clin Genet. 1974;5(4):271-84 [PMID: 4854942]
  4. Lancet. 1976 Jul 10;2(7976):90-1 [PMID: 59164]
  5. J Genet Hum. 1976 Jun;24(2):153-68 [PMID: 965952]
  6. Lancet. 1977 Apr 2;1(8014):759 [PMID: 66558]
  7. J Med Genet. 1978 Apr;15(2):106-8 [PMID: 641941]
  8. Lancet. 1978 May 20;1(8073):1102 [PMID: 77401]
  9. J Med Genet. 1978 Oct;15(5):339-45 [PMID: 739522]
  10. Lancet. 1979 Mar 31;1(8118):692-4 [PMID: 85935]
  11. J Med Genet. 1979 Apr;16(2):117-21 [PMID: 379337]
  12. Arch Dis Child. 1979 Jul;54(7):534-7 [PMID: 485196]
  13. J Pediatr. 1967 Jul;71(1):82-93 [PMID: 5293863]
  14. Am J Hum Genet. 1951 Jun;3(2):111-25 [PMID: 14902757]
  15. Ann Eugen. 1953 Jun;18(1):50-93; contd [PMID: 13058272]
  16. Ann Hum Genet. 1959 Apr;23(2):127-63 [PMID: 13637556]
  17. Br Med J. 1965 Mar 20;1(5437):750-3 [PMID: 14248444]

MeSH Term

England
Female
Gene Frequency
Genetic Carrier Screening
Genetic Linkage
Humans
Male
Muscular Dystrophies
X Chromosome

Word Cloud

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