Abstract
The prevalence of Werdnig-Hoffmann disease was found to be 0.66 per 10,000 livebirths in Hungary from 1973 to 1980. However, the true prevalence is estimated to be 1 per 10,000 livebirths, which exceeds the level of a previously published English study. There was no higher fetal death rate in previous and subsequent pregnancies of index patients' mothers. The occurrence in sibs was 32%, probably because of greater ascertainment in families with more than one affected child.
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- Czeizel A., Bodnár L., Illei G., Molnár A. The occurrence of consanguineous marriages in Hungary. Hum Hered. 1976;26(2):110–112. doi: 10.1159/000152790. [DOI] [PubMed] [Google Scholar]
- Czeizel A., Métneki J., Osztovics M. Cases of a Genetic Counselling Clinic. Acta Paediatr Acad Sci Hung. 1980;21(1):33–54. [PubMed] [Google Scholar]
- Emery A. E. The nosology of the spinal muscular atrophies. J Med Genet. 1971 Dec;8(4):481–495. doi: 10.1136/jmg.8.4.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fried K., Emery A. E. Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). Clin Genet. 1971;2(4):203–209. [PubMed] [Google Scholar]
- Fried K., Mundel G. High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel. Clin Genet. 1977 Oct;12(4):250–251. doi: 10.1111/j.1399-0004.1977.tb00934.x. [DOI] [PubMed] [Google Scholar]
- Pascalet-Guidon M. J., Bois E., Feingold J., Mattei J. F., Combes J. C., Hamon C. Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island. Clin Genet. 1984 Jul;26(1):39–42. doi: 10.1111/j.1399-0004.1984.tb00785.x. [DOI] [PubMed] [Google Scholar]
- Pearn J. H. 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. doi: 10.1136/jmg.10.3.260. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Roberts D. F., Chavez J., Court S. D. The genetic component in child mortality. Arch Dis Child. 1970 Feb;45(239):33–38. doi: 10.1136/adc.45.239.33. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schaap T. Werdnig-Hoffmann disease on Reunion Island: a founder effect? Clin Genet. 1985 Jun;27(6):617–619. doi: 10.1111/j.1399-0004.1985.tb02049.x. [DOI] [PubMed] [Google Scholar]