Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1981 Feb;18(1):1–7. doi: 10.1136/jmg.18.1.1

A genetic study of Duchenne muscular dystrophy in West Midlands.

S Bundey
PMCID: PMC1048649  PMID: 7252996

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.

Full text

PDF
2

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BLYTH H., PUGH R. J. Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance. Ann Hum Genet. 1959 Apr;23(2):127–163. doi: 10.1111/j.1469-1809.1958.tb01457.x. [DOI] [PubMed] [Google Scholar]
  2. Bundey S., Crawley J. M., Edwards J. H., Westhead R. A. Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women. J Med Genet. 1979 Apr;16(2):117–121. doi: 10.1136/jmg.16.2.117. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Davie A. M., Emery A. E. Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. J Med Genet. 1978 Oct;15(5):339–345. doi: 10.1136/jmg.15.5.339. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dennis N. R., Carter C. O. Use of overlapping normal distributions in genetic counselling. J Med Genet. 1978 Apr;15(2):106–108. doi: 10.1136/jmg.15.2.106. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Emery A. E. Genetic counselling in X-linked muscular dystrophy. J Neurol Sci. 1969 May-Jun;8(3):579–587. doi: 10.1016/0022-510x(69)90016-1. [DOI] [PubMed] [Google Scholar]
  6. Gardner-Medwin D., Bundey S., Green S. Early diagnosis of Duchenne muscular dystrophy. Lancet. 1978 May 20;1(8073):1102–1102. doi: 10.1016/s0140-6736(78)90949-2. [DOI] [PubMed] [Google Scholar]
  7. Gardner-Medwin D. Mutation rate in Duchenne type of muscular dystrophy. J Med Genet. 1970 Dec;7(4):334–337. doi: 10.1136/jmg.7.4.334. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Moser H., Emery A. E. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet. 1974;5(4):271–284. doi: 10.1111/j.1399-0004.1974.tb01694.x. [DOI] [PubMed] [Google Scholar]
  9. Nicholson G. A., Gardner-Medwin D., Pennington R. J., Walton J. N. Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity. Lancet. 1979 Mar 31;1(8118):692–694. doi: 10.1016/s0140-6736(79)91147-4. [DOI] [PubMed] [Google Scholar]
  10. STEPHENS F. E., TYLER F. H. Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds. Am J Hum Genet. 1951 Jun;3(2):111–125. [PMC free article] [PubMed] [Google Scholar]
  11. STEVENSON A. C. Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families. Ann Eugen. 1953 Jun;18(1):50–contd. doi: 10.1111/j.1469-1809.1952.tb02497.x. [DOI] [PubMed] [Google Scholar]
  12. Sibert J. R., Harper P. S., Thompson R. J., Newcombe R. G. Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. Arch Dis Child. 1979 Jul;54(7):534–537. doi: 10.1136/adc.54.7.534. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Siegel I. M. Letter: Very early diagnosis of Duchenne muscular dystrophy. Lancet. 1976 Jul 10;2(7976):90–91. doi: 10.1016/s0140-6736(76)92302-3. [DOI] [PubMed] [Google Scholar]
  14. Thompson M. W., Murphy E. G., McAlpine P. J. An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy. J Pediatr. 1967 Jul;71(1):82–93. doi: 10.1016/s0022-3476(67)80235-x. [DOI] [PubMed] [Google Scholar]
  15. WILSON K. M., EVANS K. A., CARTER C. O. CREATINE KINASE LEVELS IN WOMEN WHO CARRY GENES FOR THREE TYPES OF MUSCULAR DYSTROPHY. Br Med J. 1965 Mar 20;1(5437):750–753. doi: 10.1136/bmj.1.5437.750. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Zatz M., Frota-Pessoa O., Levy J. A., Peres C. A. Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study. J Genet Hum. 1976 Jun;24(2):153–168. [PubMed] [Google Scholar]
  17. Zatz M., Lange K., Spence M. A. Frequency of Duchenne muscular dystrophy carriers. Lancet. 1977 Apr 2;1(8014):759–759. doi: 10.1016/s0140-6736(77)92211-5. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES