Table 3 Estimated prevalence and relative frequencies of the most common LGMD subtypes (Bevilacqua et al. 2020; Chakravorty et al. 2020; Cotta et al. 2017; Fanin et al. 2009; Gomez-Diaz et al., 2012; Guglieri et al. 2008; Lo et al. 2008; Lorenzoni et al. 2023; Liu et al. 2019; Norwood et al. 2009; Winckler et al. 2019)
Database (reference) n = number of patients | Subtypes of LGMD | LGMD R1 | LGMD R2 | LGMD R3, LGMD R4, LGMD R5, LGMD R6 | LGMD R7 | LGMD R9 | LGMD R12 | LGMD R22 (Bethlem myopathy) |
|---|---|---|---|---|---|---|---|---|
Genes | CAPN3 | DYSF | SGCA, SGCB, SGCG, and SGCD | TCAP | FKRP | ANO5 | COL6A1, COL6A2, and COL6A3 | |
Global molecular database: Bayesian GnomAD database estimated prevalence per 100,000 (Liu et al. 2019) n = 748 | Prevalence (100,000) | 0.84 | 0.75 | 0.437 | 0.004 | 0.45 | 1.76 | NR |
UK estimated prevalence per 100,000 (Norwood et al. 2009) n = 1105 | Prevalence (100,000) | 0.60 | 0.13 | 0.27 | NR | 0.43 | NR | 0.77 |
Latin American survey (Bevilacqua et al. 2020) N = 2103 | Relative frequency | 26.87% | 37,91% | 19.72% | 4.48% | 5.37% | 5.97% | NR |
Brazilian survey (Winckler et al. 2019) n = 370 | Relative frequency | 32% | 30% | 22% | 5.3% | 6.7% | 4.2% | NR |
Brazilian single center study (Lorenzoni et al. 2023) n = 36 | Relative frequency | 26% | 26% | 13% | 18% | 13% | 4% | NR |
Brazilian single centre study (Cotta et al. 2017) n = 157 | Relative frequency | 15% | 18% | 17% | 2% | 5% | NR | NR |
India (Chakravorty et al. 2020) n = 207 | Relative frequency | 19% | 27% | 2% | 2% | NR | 3% | NR |
Italy (Fanin et al. 2009) n = 346 | Relative frequency | 25% | 11% | 15% | NR | 4% | NR | NR |
Italy (Guglieri et al. 2008) n = 155 | Relative frequency | 28% | 19% | 18% | NR | 7% | NR | NR |
Mexico (Gomez-Diaz et al., 2012) n = 97 | Relative frequency | 25% | 40% | 31% | NR | NR | NR | NR |
Australia (Lo et al. 2008) n = 76 | Relative frequency | 8% | 5% | 2% | NR | 3% | NR | NR |