Background: Prevalence estimates for the 2 forms of myotonic dystrophy types 1 and 2 (DM1 and DM2) are not exhaustive or non-available. Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of descriptive epidemiology. Methods: All patients with a molecular diagnosis of DM1/DM2 and residents in the Rome province in 2013 have been enrolled, and the age-standardized prevalence has been calculated, assuming a Poisson distribution and adjusting for age. Results: We identified 395 DM1 patients: the age-standardized prevalence for total, females and males was 9.65, 8.35 and 11.07/100,000, respectively. The mean age of subjects differed considerably according to CTG repeat length (p = 0.001). Forty DM2 patients were identified. The age-standardized prevalence for total, females and males was 0.99, 1.07 and 0.90/100,000, respectively. The mean age was 57.05. Conclusions: We estimated for the first time the age-standardized prevalence and the sex and age distribution of DM1 and DM2 in a general population. A higher prevalence of males in DM1 and females in DM2 and a higher mean age of DM2 patients ( years) were ascertained. Prevalence of DM2 was 10% that of DM1. These prevalence values are probably lower than mutational rates due to the incomplete penetrance of DM1 mutations and to the clinical elusiveness of DM2. Our findings will be useful in designing cohort studies and for developing a disease registry.

Vanacore, N., Rastelli, E., Antonini, G., Bianchi, M., Botta, A., Bucci, E., et al. (2016). An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy. NEUROEPIDEMIOLOGY, 46(3), 191-197 [10.1159/000444018].

An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy

ANTONINI, GIOVANNI;BOTTA, ANNALISA;NOVELLI, GIUSEPPE;MASSA, ROBERTO
2016-02

Abstract

Background: Prevalence estimates for the 2 forms of myotonic dystrophy types 1 and 2 (DM1 and DM2) are not exhaustive or non-available. Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of descriptive epidemiology. Methods: All patients with a molecular diagnosis of DM1/DM2 and residents in the Rome province in 2013 have been enrolled, and the age-standardized prevalence has been calculated, assuming a Poisson distribution and adjusting for age. Results: We identified 395 DM1 patients: the age-standardized prevalence for total, females and males was 9.65, 8.35 and 11.07/100,000, respectively. The mean age of subjects differed considerably according to CTG repeat length (p = 0.001). Forty DM2 patients were identified. The age-standardized prevalence for total, females and males was 0.99, 1.07 and 0.90/100,000, respectively. The mean age was 57.05. Conclusions: We estimated for the first time the age-standardized prevalence and the sex and age distribution of DM1 and DM2 in a general population. A higher prevalence of males in DM1 and females in DM2 and a higher mean age of DM2 patients ( years) were ascertained. Prevalence of DM2 was 10% that of DM1. These prevalence values are probably lower than mutational rates due to the incomplete penetrance of DM1 mutations and to the clinical elusiveness of DM2. Our findings will be useful in designing cohort studies and for developing a disease registry.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/26
English
Con Impact Factor ISI
age-standardized; epidemiology; myotonic dystrophy type 1; myotonic dystrophy type 2; prevalence Italy; epidemiology; neurology (clinical)
Vanacore, N., Rastelli, E., Antonini, G., Bianchi, M., Botta, A., Bucci, E., et al. (2016). An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy. NEUROEPIDEMIOLOGY, 46(3), 191-197 [10.1159/000444018].
Vanacore, N; Rastelli, E; Antonini, G; Bianchi, M; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, A; Novelli, G; Pennisi, E; Petrucci, A; Piantadosi, C; Silvestri, G; Terracciano, C; Massa, R
Articolo su rivista
File in questo prodotto:
File Dimensione Formato  
Neuroepid.pdf

non disponibili

Tipologia: Versione Editoriale (PDF)
Licenza: Copyright dell'editore
Dimensione 3.25 MB
Formato Adobe PDF
3.25 MB Adobe PDF   Visualizza/Apri   Richiedi una copia
Neuroepid.pdf

non disponibili

Tipologia: Versione Editoriale (PDF)
Licenza: Copyright dell'editore
Dimensione 3.25 MB
Formato Adobe PDF
3.25 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/163050
Citazioni
  • ???jsp.display-item.citation.pmc??? 10
  • Scopus 25
  • ???jsp.display-item.citation.isi??? 24
social impact