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

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 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 57.

Spinal Muscular Atrophies

“…The incidence of SMA has been estimated at 1 in 6000 to 11,000 live births [4][5][6][7] or approximately 7.8 to 10 per 100,000 live births [8][9][10] and at 4.1 per 100,000 live births for type I SMA. 8 The estimated panethnic disease frequency is approximately 1 in 11,000.…”

Detection of Spinal Muscular Atrophy Carriers in a Sample of the Brazilian Population

“…Reports of carrier frequencies in populations vary: there are low frequencies in African Americans (1/91) [14] and in the geographic regions of Spain (1/125) [14] , Northeast England (1/80) [16] , Warsaw (1/70) [17] , South China (1/63) [18] and Israel (1/62) [19] ; intermediate frequencies in Ashkenazi Jews (1/46), Caucasians (1/37) [14] , Chinese (1/42) [20] and in the regions of Italy (1/57) [21] , Asia (1/56) [14] , Korea (1/47-1/50) [6,22] , North Dakota (1/41) [23] , Philadelphia (1/40) [24] , Poland and Germany (1/35) [3,4] , and France (1/34) [5] ; and high frequencies in Saudi Arabia and Iran (1/20) [25,26] .…”

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

“…It is similar to the results from Hungary of 1: 15,152 live births [13] . However, even lower incidence rates have been found in Poland (1: 19,474 live births) [14] , England (1: 25,708 live births) [15] , and Italy (4.1: 100,000 live births) [16] . In Europe, higher rates of SMA have been reported in Northern Finland (1: 7,100 live births) and Slovakia (1: 5,600 live births) [17] .…”