title: Population-based incidence and prevalence of facioscapulohumeral dystrophy.
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.
authors.affiliation: 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.
authors.forename: Johanna C W
authors.initials: JC
authors.lastname: Deenen
authors.affiliation: 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.
authors.forename: Hisse
authors.initials: H
authors.lastname: Arnts
authors.affiliation: 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.
authors.forename: Silvère M
authors.initials: SM
authors.lastname: van der Maarel
authors.affiliation: 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.
authors.forename: George W
authors.initials: GW
authors.lastname: Padberg
authors.affiliation: 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.
authors.forename: Jan J G M
authors.initials: JJ
authors.lastname: Verschuuren
authors.affiliation: 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.
authors.forename: Egbert
authors.initials: E
authors.lastname: Bakker
authors.affiliation: 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.
authors.forename: Stephanie S
authors.initials: SS
authors.lastname: Weinreich
authors.affiliation: 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.
authors.forename: André L M
authors.initials: AL
authors.lastname: Verbeek
authors.affiliation: 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.
authors.forename: Baziel G M
authors.initials: BG
authors.lastname: van Engelen
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000453:epidemiology*; D009426:Netherlands / Q000453:epidemiology; D015995:Prevalence; D012042:Registries