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J Med Genet. Dec 1978; 15(6): 409–413.
PMCID: PMC1013753

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

Abstract

A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence. The incidence of this disease was 1 in 24 100 live births. Prevalence was 1.20 per 100,000 of the general population. A technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies), using data from a segregation analysis, is described. Gene frequency was in the range (0.00451 to 0.00659 (95% confidence limits), with a working estimate of 0.0055. Carrier rates for the autosomal recessive gene concerned were 1 in 76 to 1 in 111 (95%) confidence limits), with a working estimate of 1 in 90 for genetic counselling purposes.

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Selected References

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  • Bundey S, Lovelace RE. A clinical and genetic study of chronic proximal spinal muscular atrophy. Brain. 1975 Sep;98(3):455–472. [PubMed]
  • Carter CO. Monogenic disorders. J Med Genet. 1977 Oct;14(5):316–320. [PMC free article] [PubMed]
  • Emery AE. The nosology of the spinal muscular atrophies. J Med Genet. 1971 Dec;8(4):481–495. [PMC free article] [PubMed]
  • Emery AE, Davie AM, Holloway S, skinner R. International collaborative study of the spinal muscular atrophies. Part 2. Analysis of genetic data. J Neurol Sci. 1976 Dec;30(2-3):375–384. [PubMed]
  • HUTCHISON JH, MCGIRR EM. Sporadic non-endemic goitrous cretinism; hereditary transmission. Lancet. 1956 Jun 30;270(6931):1035–1037. [PubMed]
  • Pearn JH. The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England. J Med Genet. 1973 Sep;10(3):260–265. [PMC free article] [PubMed]
  • Pearn J. Segregation analysis of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):418–423. [PMC free article] [PubMed]
  • Pearn JH, Carter CO, Wilson J. The genetic identity of acute infantile spinal muscular atrophy. Brain. 1973 Sep;96(3):463–470. [PubMed]
  • Pearn JH, Wilson J. Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy. Arch Dis Child. 1973 Jun;48(6):425–430. [PMC free article] [PubMed]
  • Pearn JH, Wilson J. Chronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease. Arch Dis Child. 1973 Oct;48(10):768–774. [PMC free article] [PubMed]
  • Winsor EJ, Murphy EG, Thompson MW, Reed TE. Genetics of childhood spinal muscular atrophy. J Med Genet. 1971 Jun;8(2):143–148. [PMC free article] [PubMed]

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