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Table 2 Incidence data for three subdivisions of primary muscle disorders

From: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

  Maximum incidence Minimum incidence Average
Type freq. × 10-6 fraction freq. × 10-6 fraction ×10-6 fraction
DMD/BMD 354 1/2825 186 1/5376 270 1/3703
Other dystrophies 100 1/10000 41 1/24390 70 1/14286
Congenital myopathies 219 1/4566 100 1/10000 160 1/6250
Total 673 1/1486 327 1/3050 500 1/2000
  1. DMD mean incidence is well established at 300 × 10-6 (Emery 2002) but data varies from country to country and survey to survey. It is unlikely to be much higher but may be as low as 169 × 10-6 (Cowan 1980). BMD frequency is based on (Emery 1991). Thankfully, both DMD and BMD incidence is probably declining annually due to genetic testing and counselling.
  2. Other dystrophy incidence numbers are scarce to non-existent. The rough estimate maximum is extrapolated from (Bushby 2001) and minimum from (Emery 2002).
  3. Other congenital myopathy numbers are also scarce to non-existent. The maximum estimate is extrapolated from (Nonaka 2001) as 81% of the mean DMD incidence. The minimum estimate is extrapolated from (D'Amico 2008) and (Lopate 2007).
  4. These data were used for estimation of testing cost and should be considered as rough estimates only.