Table 1 Summary of study specifications
From: Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis
First author, year, references | Type of muscular dystrophy | Prevalence per hundred thousand people | Sample size | Diagnostic criteria | Age (years) | Country | Report year |
|---|---|---|---|---|---|---|---|
Nakagawa-1,1991, [21] | DMD | 7.12 | 603,392 | Clinical presentation, high serum CK levels, EMG, | - | Japan | 1989 |
Nakagawa-2,1991, [21] | BMD | 1.82 | 603,392 | Clinical presentation, high serum CK levels, EMG, | - | Japan | 1989 |
Chan,2015, [22] | DMD/BMD | 10.3 | 873,786 | – | 0–24 | China | 2015 |
Chung-1,2003, [23] | DMD | 10.44 | 631,854 | High serum CK level, nerve conduction study, EMG, muscle biopsy, genetic testing | – | China | 2001 |
Chung-2,2003, [23] | BMD | 1.26 | 631,854 | – | – | China | 2001 |
Talkop,2003, [24] | DMD | 12.76 | 195,869 | – | > 20 | Estonia | 1998 |
Lefter-1,2017, [25] | DMD | 3 | 1,666,666 | Genetic and electrophysiological tests | – | Ireland | 2017 |
Lefter-2,2017, [25] | BMD | 2.2 | 1,681,818 | Genetic and electrophysiological tests | – | Ireland | 2017 |
Husebye-1,2020, [26] | DMD | 2.01 | 547,263 | – | Norway | 2020 | |
Husebye-2,2020, [26] | BMD | 0.04 | 500,000 | – | Norway | 2020 | |
Siciliano-1,1999, [27] | DMD | 1.69 | 1,296,275 | Genetic testing, clinical examination, high serum CK levels, family history, muscle biopsy | 13.8 ± 6.7 | Italy | 1997 |
Siciliano-2,1999, [27] | BMD | 2.46 | 1,296,275 | Genetic testing, clinical examination, high serum CK levels, family history, muscle biopsy | 36.3 ± 16.5 | Italy | 1997 |
Peterlin-1,1997, [28] | DMD | 2.9 | 1,034,482 | Clinical picture, serum enzymes, EMG and muscle biopsy | – | Slovenia | 1997 |
Peterlin-2,1997, [28] | BMD | 1.2 | 1,000,000 | Clinical picture, serum enzymes, EMG and muscle biopsy | – | Slovenia | 1997 |
Mostacciuolo-1,1993, [29] | DMD | 3.31 | 2,296,072 | – | – | Italy | 1993 |
Mostacciuolo-2,1993, [29] | BMD | 2.01 | 1,044,776 | – | – | Italy | 1993 |
Bushby,1991, [30] | BMD | 2.37 | 3,070,000 | – | 11 | UK | 1988 |
Hughes-1,1996, [31] | DMD | 4.25 | 1,573,282 | – | – | Ireland | 1994 |
Hughes-2,1996, [31] | BMD | 1.58 | 1,573,282 | – | – | Ireland | 1994 |
Jeppesen,2003, [32] | DMD | 5.49 | 2,636,364 | – | – | Denmark | 1985–2002 |
Norwood-1,2009, [33] | DMD | 8.29 | 1,495,778 | Genetic testing and genetic investigations | – | England | 2007 |
Norwood-2,2009, [33] | BMD | 7.28 | 1,495,778 | Genetic testing and genetic investigations | – | England | 2007 |
Darin-1,2000, [34] | DMD | 16.7 | 185,004 | Clinical examinations, high serum CK levels, family history, muscle biopsy, genetic testing | – | Sweden | 1995 |
Darin-2,2000, [34] | BMD | 1.62 | 185,004 | Clinical examinations, high serum CK levels, family history, muscle biopsy, genetic testing | – | Sweden | 1995 |
Danieli,1977, [35] | DMD | 3.4 | 3,000,000 | High serum CK levels | – | Italy | 1952–1972 |
Ahlström,1977, [36] | DMD | 0.7 | 285,714 | – | 11 | Sweden | 1988 |
Rasmussen-1,2012, [37] | DMD | 16.2 | 1,654,670 | Genetic testing and/or muscular biopsy | – | Norway | 2005 |
Rasmussen-2,2012, [37] | BMD | 3.5 | 1,654,670 | Genetic testing and/or muscular biopsy | – | Norway | 2005 |
van Essen,1992, [38] | DMD | 5.4 | 7,102,598 | Clinical status, serum CK levels, EMG, muscle biopsy | – | Netherlands | 1961–1982 |
LETH,1985, [39] | DMD | 6.94 | 2,348,703 | Histological changes in muscular tissue, typical electromyographic changes, high serum CK levels | – | Denmark | 1965–1975 |
MONCKTON-1,1982, [40] | DMD | 3.12 | 705,128 | – | – | Canada | 1962 |
MONCKTON-2,1982, [40] | DMD | 9.5 | 989,473 | – | – | Canada | 1979 |
Romitti-1,2015, [41] | BMD | 3.6 | 3,827,532 | ICD-9 CM code: 359.1 or ICD-10CM code: G71.0 | 5–24 | USA | 1982–2011 |
Romitti-2,2015, [41] | DMD | 10.16 | 3,827,532 | ICD-9 CM code: 359.1 or ICD-10CM code: G71.0 | 5–24 | USA | 1982–2011 |
Mah-1,2011, [1] | DMD | 10.6 | 4,990,566 | Clinical phenotypes, diagnostic methods, molecular genetic reports | – | Canada | 2000–2009 |
Mah-2,2011, [1] | BMD | 2.74 | 4,990,566 | Clinical phenotypes, diagnostic methods, molecular genetic reports | – | Canada | 2000–2009 |
Ramos-1,2016, [42] | DMD | 5.17 | 1,757,189 | – | 5.5 | Puerto Rico | 2012 |
Ramos-2,2016, [42] | BMD | 2.84 | 1,757,189 | – | 9 | Puerto Rico | 2012 |
Ballo-1,1994, [43] | DMD | 0.9 | 15,092,000 | High serum CK levels, EMG, genetic testing | – | South Africa | 1987–1992 |
Ballo-2,1994, [43] | BMD | 0.13 | 15,092,000 | High serum CK levels, EMG, genetic testing | – | South Africa | 1987–1992 |
El-Tallawy-1,2005, [44] | DMD | 7.66 | 52,203 | High serum CK levels investigations, genetic testing, muscle biopsy | – | Egypt | 1997 |
El-Tallawy-2,2005, [44] | BMD | 3.83 | 52,203 | High serum CK levels investigations, genetic testing, muscle biopsy | – | Egypt | 1997 |
Radhakrishnan,1987, [45] | DMD | 5.99 | 516,667 | Clinical examination, family history, serum CPK, EMG | 8.2 ± 3 | Libya | 1987 |