Table 2 Overview prevalence of SMA by subtype
Country | Time point | SMA | Type I | Quality and comparability | Reference | |||||||
No of patients | Population | per 100,000 | No of patients | Population | per 100,000 | |||||||
Norway (Southern + Eastern) | 01/01/1983 | 24 | 573,762 | 4.18 | 1 | 573,762 | 0.17 | Only included patients below 18 years of age | Tangsrud_1988 [25] | |||
Sweden (Western) | 31/12/2006 | 11 | 340,179 | 3.23 | - | - | - | Genetic diagnosis used Only included patients below 16 years of age | Arkblad_2009 [23] | |||
Sweden (Western) | 01/01/1995 | 10 | 359,676 | 2.78 | 1 | 359,676 | 0.28 | Only included patients below 16 years of age | Darin_2000 [24] | |||
Estonia | 31/12/2003 | - | - | - | 2 | 1,351,069 | 0.15 | Genetic diagnosis used | Vaidla_2006 [34] | |||
United Kingdom (Northern Ireland) | 30/06/1994 | 22 | 1,573,282 | 1.40 | - | - | - | Hughes_1996 [110] | ||||
United Kingdom (Northern England) | 01/08/2007 | 56 | 2,991,517 | 1.87 | 3 | 2,991,517 | 0.10 | Genetic diagnosis used in most cases | Norwood_2009 [32] | |||
Germany (West‑Thüringen) | 31/12/1987 | - | - | - | 3 | 1,778,200 | 0.17 | Thieme_1993 [33] | ||||
Italy (Bologna) | 31/12/1989 | 10 | 152,529 | 6.56 | - | - | - | Only included patients below 20 years of age | Merlini_1992 [22] | |||
Saudi Arabia (Northeast, Thugbah) | 02/08/1989 | 3 | 22,630 | 13.26 | 1 | 22,630 | 4.42 | In half of the cases parental consanguinity was observed | al Rajeh_1993 [29] | |||
China (Hongkong) | 30/06/2001 | 25 | 1,335,469 | 1.87 | 2 | 1,335,469 | 0.15 | Partly used genetic diagnosis | Chung_2003 [31] | |||
Canada (Toronto) | 1962–1964 | 20.33 | 2,748,500 | 0.74 | - | - | - | Average of a three-year period | Winsor_1971 [111] | |||
Country | Time point | 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 | ||||
Norway (Southern + Eastern) | 01/01/1983 | 21 | 573,762 | 3.66 | 2 | 573,762 | 0.35 | 23 | 573,762 | 4.01 | Only included patients below 18 years of age | Tangsrud_1988 [25] |
Sweden (Western) | 01/01/1995 | 4 | 359,676 | 1.11 | 5 | 359,676 | 1.39 | 9 | 359,676 | 2.50 | Only included patients below 16 years of age | Darin_2000 [24] |
United Kingdom (Northern England) | 01/08/2007 | 17 | 2,991,517 | 0.57 | 36 | 2,991,517 | 1.20 | 53 | 2,991,517 | 1.77 | Genetic diagnosis used in most casesa | Norwood_2009 [32] |
United Kingdom (Northeast England) | June 1971 | - | - | - | - | - | - | 30 | 2,488,810 | 1.21 | Type II/III patients defined as: onset of disease between birth and 8 years of age, survival above 18 months of age | Pearn_1978 [41] |
Germany (West‑Thüringen) | 31/12/1980 | - | - | - | - | - | - | 29 | 1,785,239 | 1.62 | Type II/III patients defined as: survival above 4 years of age Exact number of patients not mentionedb | Thieme_1994 [43] |
Poland (Warsaw) | 31/12/1985 | - | - | - | - | - | - | 21 | 1,659,385 | 1.26 | Exact number of patients not mentionedb | Spiegler_1990 [42] |
Libya (Benghazi) | 31/12/1986 | - | - | - | - | - | - | 12 | - | 2.30 | In half of the cases parental consanguinity was observed | Radhakrishan_1988 [48] |
Saudi Arabia (Northeast, Thugbah) | 02/08/1989 | 2 | 22,630 | 8.84 | - | - | - | - | - | - | In half of the cases parental consanguinity was observed | al Rajeh_1993 [29] |
China (Hongkong) | 30/06/2001 | 9 | 1,335,469 | 0.67 | 14 | 1,335,469 | 1.05 | 23 | 1,335,469 | 1.72 | Partly used genetic diagnosis | Chung_2003 [31] |