Hearing loss in facioscapulohumeral dystrophy

Abstract

Bilateral sloping high frequency hearing loss of 20-90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequent phenomenon of early onset FSHD.

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

“…The observations were in agreement with earlier reports that described overt deafness as a frequent clinical manifestation of FSHD in children with the uncommon severe, early-onset form [Small, 1968;Taylor and Brooke, 1982;Meyerson et al, 1984;Korf et al, 1985;Voit et al, 1986]. The possibility that hearing loss was also present in typical late-onset FSHD was further studied by Rogers et al [2002] in a series of 21 adult patients.…”

“…Subsequent reports in similar young subjects with genetically confirmed FSHD not only corroborated the common occurrence of sensorineural deafness in the early-onset form [Jardine et al, 1994;Brouwer et al, 1995;Hobson-Webb and Caress, 2006], but also clearly indicated the frequent association with symptoms of brain involvement, such as mental retardation and epilepsy [Funakoshi et al, 1998;HobsonWebb and Caress, 2006;Tawil and Van der Maarel, 2006]. Some authors also evaluated brainstem auditory-evoked responses in young patients with the early-onset form [Taylor et al, 1982;Meyerson et al, 1984;Gieron et al, 1985;Voit et al, 1986]. Their findings suggested a cochlea pathology with integrity of the pathways to the temporal cortex.…”

“…Since the first investigations on the occurrence of extramuscular symptoms, it was evident that, besides severe muscle involvement, children suffering from early-onset FSHD were often affected by overt hearing impairment, in addition to a possible association with retinal vascular changes [Small, 1968;Taylor and Brooke, 1982;Meyerson et al, 1984;Korf et al, 1985;Voit et al, 1986]. Subsequent reports in similar young subjects with genetically confirmed FSHD not only corroborated the common occurrence of sensorineural deafness in the early-onset form [Jardine et al, 1994;Brouwer et al, 1995;Hobson-Webb and Caress, 2006], but also clearly indicated the frequent association with symptoms of brain involvement, such as mental retardation and epilepsy [Funakoshi et al, 1998;HobsonWebb and Caress, 2006;Tawil and Van der Maarel, 2006].…”

A Second Family with Nonsyndromic Sensorineural Hearing Loss Linked to Xp21.2: Refinement of the DFN4 Locus within DMD

“…Lynch et al suggested that mutation of HDIA1 may impair maintenance of organization of the actin fibers of the cuticular plate, the stereocilia, and or the circumferential belt and thus lead to deafness (Lynch et al, 1997). Hearing loss in muscular dystrophy disease, as for example in facioscapulohumeral dystrophy (Voit et al, 1986) or secondary adhalinopathy (Oexle et al, 1995), stresses the potential role of abnormalities in the composition of the sarcolemmal dystrophin-glycoprotein complex and suggests that they are likely to play a critical role in the mechanotransduction.…”

The Auditory, Vestibular, and Oculomotor System in Facioscapulohumeral Dystrophy

“…Voit et al (10) suggested that in FSHD, SNHL of cases (n = 3); 2 patients were sibs, which was a initially involves high-frequency loss and tends to involve the lower frequencies with increasing age. Support for these observations can be derived from other reported data ( 6,8).…”