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Table 3 Overview incidence of SMA by subtype

From: Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Country Timeframe SMA Type I Quality and comparability Reference
   No of patients Population per 100,000 No of patients Population per 100,000      
 Iceland 1982–1996 9 65,584 13.7 4 65,584 6.1   Ludvigsson_1999 [112]
 Sweden (Western) 1980–2006 45 531,746 8.5 19 531,746 3.6 Genetic diagnosis used
Only included patients below 16 years of age
Arkblad_2009 [23]
 Sweden (Western) 1979–1994 21 343,941 6.1 13 343,941 3.8 Only included patients below 16 years of age Darin_2000 [24]
 Finland 1971–1985 68 952,228 7.1 53 952,228 5.6   Ignatius_1989 [51]
 Estonia 1994–2003 15 129,832 11.6 9 129,832 6.9 Genetic diagnosis used Vaidla_2006 [34]
 United Kingdom (South Wales) 1973–1989 - - - - - 4.4 No details provided MacMillan_1991 [113]
 United Kingdom (Northeast England) 1966–1971 - - - 9 231,370 3.9 Type I defined as onset of disease before 12 months of age Pearn_1973 [52]
 Germany (West-Thüringen) 1974–1987 - - - 33 336,663 9.8   Thieme_1993 [33]
 Switzerland 1960–1969 - - - 62 1,100,000 5.6 Probably also contains some type II patients Zellweger_1972 [55]
 Poland (Warsaw) 1976–1985 22 214,217 10.3 11 214,217 5.1 Patients described as type Ib reclassified as type II according to the description Spiegler_1990 [42]
 Poland 1998–2005 304 2,963,783 10.3 209 2,963,783 7.1 Genetic diagnosis used Jedrzejowska_2010 [73]
 Slovakia   - - 17.8 - - 8.1   Kvasnicova_1994 [44]
 Hungary 1973–1980 - - - 91 1,376,928 6.6   Czeizel_1989 [50]
 Italy (Northeast) 1960–1983 67 859,891 7.8 35 859,891 4.1   Mostacciuolo_1992 [114]
 Italy (Bologna) 1970–1989 17 150,978 11.3 8 150,978 5.3 Only included patients below 20 years of age Merlini_1992 [22]
 Libya (Benghazi) 1983–1986 18 75,000 24 6 75,000 8 In half of the cases parental consanguinity was observed
Population number is an estimation
Radhakrishan_1988 [48]
 Reunion Island 1969–1980 - - - 19 24,000 79 In 13 siblings of a European community
Population number is an estimation
Pascalet-Guideon_1984 [115]
 Israel 1970–1975 - - - 4 1600 250 In an Egyptian Karaite community
Population number is an estimation
Fried_1977 [116]
 Canada (Toronto) 1955–1965 37 617,520 6.0 - - -   Winsor_1971 [111]
 USA (Ohio)   4 40,103 10.0 - - - Genetic diagnosis used Prior_2010 [101]
 USA (North Dakota) 1980–1987 - - - 14 94,092 14.9   Burd_1991 [53]
 Cuba 1996–2002 51 1,018,454 5.0 36 1,018,454 3.5 Partly used genetic diagnosis Zaldivar_2002 [45]
Country Timeframe Type II Type III Type II + III Quality and comparability Reference
   No of patients Population per 100,000 No of patients Population per 100,000 No of patients Population per 100,000   
 Iceland 1982–1996 2 65,584 3.0 3 65,584 4.6 5 65,584 7.6   Ludvigsson_1999 [112]
 Sweden (Western) 1980–2006 11 531,746 2.1 15 531,746 2.8 26 531,746 4.9 Genetic diagnosis used
Only included patients below 16 years of age
Arkblad_2009 [23]
 Sweden (Western) 1979–1994 3 343,941 0.9b 5 343,941 1.5 8 343,941 2.3 Only included patients below 16 years of age Darin_2000 [24]
 Finland 1971–1985 - - - - - - 15 952,228 1.6   Ignatius_1989 [51]
 United Kingdom (Northeast England) 1960–1969 - - - - - - 15k 365,166 4.1   Pearn_1978 [41]
 Germany (West-Thüringen) 1965–1980 - - - - - - 42 395,646 10.6 Type II/III patients defined as: survival above 4 years of age Thieme_1994 [43]
 Poland (Warsaw) 1976–1985 10 214,217 4.7 1 214,217 0.5 11 214,217 5.1 Type II defined as onset of disease before 12 months of age Spiegler_1990 [42]
 Poland 1998–2005 37 2,963,783 1.2 58 2,963,783 2.0 95 2,963,783 3.2 Genetic diagnosis used Jedrzejowska_2010 [73]
 Slovakia   - - 3.7 - - 5.9 - - 9.6   Kvasnicova_1994 [44]
 Italy (Northeast) 1960–1983 19 859,891 2.2 13 859,891 1.5 32 859,891 3.7   Mostacciuolo_1992 [114]
 Italy (Bologna) 1970–1989 8 150,978 5.3f 1 150,978 0.7 9 150,978 6.0 Only included patients below 20 years of age Merlini_1992 [22]
 Libya (Benghazi) 1983–1986 - - - - - - 12 75,000 16 In half of the cases parental consanguinity was observed
Population number is an estimation
Radhakrishan_1988 [48]
  1. Incidence per 100,000 live births. Studies have been grouped by geographical region. Studies are based on clinical diagnosis, unless otherwise indicated. Indicated if described in article that different classification criteria than those in Table 1 were used