Genetic epidemiology of Duchenne and Becker muscular dystrophy in Slovenia

Most population studies on Duchenne (DMD) and Becker (BMD) muscular dystrophies predated the discovery of the gene and its product dystrophin. The diagnosis of these conditions and consequent epidemiological estimates were therefore limited to clinical criteria. In our study of the Slovene population the prevalence and cumulative incidence of DMD and BMD were calculated by including additional diagnostic tests: deletion screening in the dystrophin gene as well as dystrophin immunocytochemistry. The minimal prevalence rates, 2.9/100000 for DMD, 1.2/100000 for BMD, and the minimal cumulative DMD incidence rate of 13.8/100000 are in the range of lower estimates compared to studies world‐wide. However, we found a high BMD cumulative incidence rate of 5.7/100000 and a high proportion of BMD versus DMD cumulative incidence rate (41.3%). Our results imply that the epidemiological figures for BMD might have been underestimated in the past.