Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

摘要

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 IIIwas 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 10–6 and the frequency of the heterozygotes 1 in