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

doi:10.1034/j.1399-0004.1999.560107.x

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

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

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 language	English
Pages (from-to)	51-58
Number of pages	8
Journal	Clinical Genetics
Volume	56
Issue number	1
DOIs	https://doi.org/10.1034/j.1399-0004.1999.560107.x
Publication status	Published - 1999

Keywords

Becker muscular dystrophy
Duchenne muscular dystrophy
Dystrophinopathies
Epidemiology
Molecular diagnosis

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1034/j.1399-0004.1999.560107.x

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title = "Epidemiology of dystrophinopathies in North-West Tuscany: A molecular genetics-based revisitation",

abstract = "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.",

keywords = "Becker muscular dystrophy, Duchenne muscular dystrophy, Dystrophinopathies, Epidemiology, Molecular diagnosis",

author = "G. Siciliano and A. Tessa and M. Renna and Manca, {M. L.} and M. Mancuso and L. Murri",

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T2 - A molecular genetics-based revisitation

AU - Siciliano, G.

AU - Tessa, A.

AU - Renna, M.

AU - Manca, M. L.

AU - Mancuso, M.

AU - Murri, L.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Becker muscular dystrophy

KW - Duchenne muscular dystrophy

KW - Dystrophinopathies

KW - Epidemiology

KW - Molecular diagnosis

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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