title: High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel.
abstract: Spinal muscular atrophy (S.M.A.) type I (Infantile werdnig - Hoffmann Disease) was found in 4:1,600 (1:400) infants of the Egyptian Karaite community. This group constitutes a representative sample of the Egyptian Karaite community in Israel, which numbers at present somewhat more than 7,000. The community existed as a religious and reproductive isolate for over 10 centuries. The very high gene frequency, 0.05 for the autosomal recessive gene of S.M.A. type I, is probably the result of genetic drift.
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007557:Israel; D008297:Male; D009133:Muscular Atrophy / Q000453:epidemiology* / Q000235:genetics; D013118:Spinal Cord Diseases / Q000453:epidemiology* / Q000235:genetics