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.
Mots-clés Pascal : Dystrophie musculaire progressive Becker, Dystrophie musculaire progressive Duchenne, Homme, Toscane, Italie, Europe, Epidémiologie, Système nerveux pathologie, Neuromusculaire pathologie, Maladie héréditaire
Mots-clés Pascal anglais : Becker muscular dystrophy, Duchenne muscular dystrophy, Human, Tuscany, Italy, Europe, Epidemiology, Nervous system diseases, Neuromuscular diseases, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0416033
Code Inist : 002B17H. Création : 22/03/2000.