Table 2

Incidence data for three subdivisions of primary muscle disorders

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


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.

Other dystrophy incidence numbers are scarce to non-existent. The rough estimate maximum is extrapolated from (Bushby 2001) and minimum from (Emery 2002).

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).

These data were used for estimation of testing cost and should be considered as rough estimates only.

Bennett et al. BMC Genetics 2009 10:66   doi:10.1186/1471-2156-10-66

Open Data