Myotonic dystrophy

CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious
screen to date showed a DM gene frequency of 1 in 1100 among Finnish blood donors,
equally divided between myotonic dystrophy type 1 (DM1) and type 2 (DM2). 1 However, the
95% confidence intervals were broad (1 in 500 to 1 in 3700) because the sample size was
small (n 5 4520). It is also possible that DM1-affected individuals were underrepresented in …