Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation

Clin Genet. 1999 Jul;56(1):51-8. doi: 10.1034/j.1399-0004.1999.560107.x.


A molecular genetics-based epidemiological investigation was carried out in 1997 in the territory of North-West Tuscany, central Italy, to calculate incidence and prevalence rates of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Results were compared with a previous epidemiological study conducted in the same area in 1981, in the pre-dystrophin era. Routine adoption of methods of molecular diagnosis determined an increase in prevalence of BMD from 1.06 x 10(-5) to 2.42 x 10(-5) inhabitants, while cumulative incidence of DMD was markedly decreased from 23.12 x 10(-5) during the period 1965-1976 to 10.71 x 10(-5) male live births during the period 1977 1994. The combined reduction of DMD/BMD diagnostic error rate and familial recurrence could explain these results, providing the bases for a consistent redefinition of dystrophinopathy carrier frequency in the area considered.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dystrophin / genetics*
  • Humans
  • Incidence
  • Italy / epidemiology
  • Male
  • Molecular Epidemiology*
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*


  • Dystrophin