Population-based incidence and prevalence of facioscapulohumeral dystrophy
JCW Deenen, H Arnts, SM van der Maarel… - Neurology, 2014 - AAN Enterprises
JCW Deenen, H Arnts, SM van der Maarel, GW Padberg, JJGM Verschuuren, E Bakker…
Neurology, 2014•AAN EnterprisesObjective: To determine the incidence and prevalence of facioscapulohumeral muscular
dystrophy (FSHD) in the Netherlands. Methods: Using 3-source capture-recapture
methodology, we estimated the total yearly number of newly found symptomatic individuals
with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic
individuals with FSHD were available from 3 large population-based registries in the
Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010) …
dystrophy (FSHD) in the Netherlands. Methods: Using 3-source capture-recapture
methodology, we estimated the total yearly number of newly found symptomatic individuals
with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic
individuals with FSHD were available from 3 large population-based registries in the
Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010) …
Objective
To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands.
Methods
Using 3-source capture-recapture methodology, we estimated the total yearly number of newly found symptomatic individuals with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic individuals with FSHD were available from 3 large population-based registries in the Netherlands if diagnosed within a 10-year period (January 1, 2001 to December 31, 2010). Multiplication of the incidence and disease duration delivered the prevalence estimate.
Results
On average, 52 people are newly diagnosed with FSHD every year. This results in an incidence rate of 0.3/100,000 person-years in the Netherlands. The prevalence rate was 12/100,000, equivalent to 2,000 affected individuals.
Conclusions
We present population-based incidence and prevalence estimates regarding symptomatic individuals with FSHD, including an estimation of the number of symptomatic individuals not present in any of the 3 used registries. This study shows that the total number of symptomatic persons with FSHD in the population may well be underestimated and a considerable number of affected individuals remain undiagnosed. This suggests that FSHD is one of the most prevalent neuromuscular disorders.
American Academy of Neurology