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. 2014 Sep 16;83(12):1056-9.
doi: 10.1212/WNL.0000000000000797. Epub 2014 Aug 13.

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Johanna C W Deenen  1 , Hisse Arnts  2 , Silvère M van der Maarel  2 , George W Padberg  2 , Jan J G M Verschuuren  2 , Egbert Bakker  2 , Stephanie S Weinreich  2 , André L M Verbeek  2 , Baziel G M van Engelen  2
Affiliations

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Johanna C W Deenen et al. Neurology. .

Abstract

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.

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Figures

Figure 1
Figure 1. Reported facioscapulohumeral muscular dystrophy prevalences from the literature
See table e-1 for data and references.
Figure 2
Figure 2. The number of symptomatic individuals with FSHD in the 3 source registries
Area-proportional Euler diagram depicts the absolute number of symptomatic individuals with facioscapulohumeral muscular dystrophy (FSHD) for each of 3 registries and their overlap, created with EulerAPE.e6 CRAMP = Computer Registry of all Myopathies and Polyneuropathies.
Figure 3
Figure 3. Annual incidence of facioscapulohumeral muscular dystrophy in the Netherlands with 95% confidence intervals for the period 2001–2010
PY = person-years.
See this image and copyright information in PMC

References

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