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

G. Siciliano, A. Tessa, M. Renna, M. L. Manca, M. Mancuso, L. Murri

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)51-58
Number of pages8
JournalClinical Genetics
Issue number1
Publication statusPublished - 1999


  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Dystrophinopathies
  • Epidemiology
  • Molecular diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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