title: Hearing loss in facioscapulohumeral muscular dystrophy.
abstract: The coincidence of facioscapulohumeral muscular dystrophy (FSHD) with sensorineural hearing loss and retinal abnormalities might imply genetic heterogeneity of FSHD. We performed screening audiometry in 56 patients with autosomal dominant FSHD and in 72 healthy family members, and found that the difference in hearing level between 4,000 Hz and 6,000 Hz was significantly greater in FSHD patients than in controls, independently both for the left and right ear. We conclude that this change of hearing function is part of the disease and may lead to severe hearing loss in some patients. The fact that it was present in all families is another argument against genetic heterogeneity.
authors.affiliation: Department of Neurology, University of Leiden, The Netherlands.
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: G W
authors.initials: GW
authors.lastname: Padberg
authors.forename: C J
authors.initials: CJ
authors.lastname: Ruys
authors.forename: R
authors.initials: R
authors.lastname: Brand
authors.forename: J A
authors.initials: JA
authors.lastname: de Laat
authors.forename: J J
authors.initials: JJ
authors.lastname: Grote
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D001299:Audiometry; D001309:Auditory Threshold / Q000502:physiology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000150:complications / Q000503:physiopathology*