Table 3 Overview incidence of SMA by subtype
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] |