Johanna C W Deenen1, Hisse Arnts2, Silvère M van der Maarel2, George W Padberg2, Jan J G M Verschuuren2, Egbert Bakker2, Stephanie S Weinreich2, André L M Verbeek2, Baziel G M van Engelen2. 1. From the Department of Neurology (J.C.W.D., H.A., G.W.P., B.G.M.v.E.) and Department for Health Evidence (A.L.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics (S.M.v.d.M.), Department of Neurology (J.J.G.M.V.), and Department of Clinical Genetics (E.B.), Leiden University Medical Center, Leiden, the Netherlands; and VU University Medical Center (S.S.W.), Amsterdam, the Netherlands. hanneke.deenen@radboudumc.nl. 2. From the Department of Neurology (J.C.W.D., H.A., G.W.P., B.G.M.v.E.) and Department for Health Evidence (A.L.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics (S.M.v.d.M.), Department of Neurology (J.J.G.M.V.), and Department of Clinical Genetics (E.B.), Leiden University Medical Center, Leiden, the Netherlands; and VU University Medical Center (S.S.W.), Amsterdam, the Netherlands.
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.
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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