Epidemiology of spinal muscular atrophies in a sample of the Italian population

M. L. Mostacciuolo, G. A. Danieli, C. Trevisan, E. Müller, C. Angelini

Research output: Contribution to journalArticlepeer-review

Abstract

In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960-1983 and involved 859, 891 consecutive live-born infants in a population of 2, 635.800 inhabitants. The overall prevalence at birth for SMA types I, II and III was 7.8/100, 000 live births. Type I alone accounted for 4.1/100, 000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 X 10-6and the frequency of the heterozygotes 1 in 57.

Original languageEnglish
Pages (from-to)34-38
Number of pages5
JournalNeuroepidemiology
Volume11
Issue number1
DOIs
Publication statusPublished - 1992

Keywords

  • Allelic mutation
  • Heterozygote
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Epidemiology
  • Clinical Neurology

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