Facioscapulohumeral Muscular Dystrophy and Accompanying Hearing Loss

Meyerson, Marion D.; Lewis, Ernest L.; Karen,

doi:10.1001/archotol.1984.00800300053012

Cited by 33 publications

(16 citation statements)

References 26 publications

(1 reference statement)

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“…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.…”

Section: Introductionsupporting

confidence: 91%

“…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.…”

Section: Discussionmentioning

confidence: 83%

“…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].…”

Section: Discussionmentioning

confidence: 99%

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Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

et al. 2007

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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant progressive myopathy, characteristically associated with a 4q35 deletion. In the unusual infantile-onset form of this degenerative disease, sensorineural hearing loss is a frequent clinical manifestation, whereas in patients with typical late-onset FSHD, investigations regarding hearing impairment yielded controversial results. We describe the findings of a multicenter investigation on possible auditory impairment in a series of 73 FSHD patients with a genetically confirmed diagnosis. Among them, 49 cases with no risk factors for deafness, aside from the disease, were identified by a clinical questionnaire and otoscopic examination (mean age 37.8 years, 31 males and 18 females). These subjects were evaluated by pure-tone audiometry. None were aware of hearing loss, while 4 had raised unilateral or bilateral pure-tone audiometric thresholds at 4000 and 8000 Hz, when evaluated by standardized tables. However, the mean raw pure-tone audiometric threshold values for these 49 cases were not significantly different from those of 55 controls (mean age 37.1 years, 32 males and 23 females). Moreover, by statistical analysis, age of onset, degree of muscular weakness and 4q35 EcoRI fragment size made no significant difference to auditory thresholds in our FSHD patients. Overall, the results of our multicenter study suggest that hearing loss in typical FSHD is not more prevalent than in the normal population.

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Section: Introductionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

et al. 2007

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“…Support for these observations can be derived from other reported data ( 6,8). The present data on patients with low-tone SNHL, however, did not show oldest patients was an air-bone gap caused by occluthe same tendency, because these patients were free significant finding.…”

Section: Discussionsupporting

confidence: 77%

The Auditory, Vestibular, and Oculomotor System in Facioscapulohumeral Dystrophy

Verhagen

Huygen

Padberg

1995

Acta Oto-Laryngologica

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Verhagen WIM, Huygcn PLM, Padberg GW. The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy. Acta Otolaryngol (Stockh) 1995; Suppl 520: 140.142.Auditory, vestibular and oculomotor function tests were performed in 14 FSHD patients (7 men, 7 women, aged 19 -74 years) with autosomal dominant facioscapulohumeral dystrophy (FSHD) due to chromosome 4q35 associated DNA rearrangements. (Cochlear) sensorineural hearing loss (SNHL) in excess of that expected for their age was found in 6 patients: in 3 at the higher frequencies and in 3 also at the lower (speech) frequencies. Brain-stem auditory evoked potentials were generally normal, Oculomotor l'un étions were normal. Four patients showed vestibular hyperre flexia, perhaps secondary to diminished head movements. Despite the apparent genetic homogeneity of the present patients, the above-mentioned (hidings showed significant associations with certain families, the cases of new mutations, or a certain generation. Therefore, FSHD in our patients demonstrated clinical heterogeneity.

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“…Sensorineural hearing loss has been reported in patients suffering from this disease and it is now understood that deafness is a central finding in this form of muscular dystrophy (Meyerson et al, 1984). Additional studies have demonstrated this hearing loss to be between 4,000 and 6,000 Hz (Brouwer et al, 1991).…”

Section: Hearing Related Syndromesmentioning

confidence: 95%

A role for epigenetics in hearing: Establishment and maintenance of auditory specific gene expression patterns

Provenzano

Domann

2007

Hearing Research

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Epigenetics is a large and diverse field encompassing a number of different mechanisms essential to development, DNA stability and gene expression. DNA methylation and histone modifications work individually and in conjunction with each other leading to phenotypic changes. An overwhelming amount of evidence exists demonstrating the essential nature of epigenetics to human biology and pathology. This field has spawned a vast array of knowledge, techniques and pharmaceuticals designed to investigate and manipulate epigenetic phenomena. Despite its centricity to molecular biology, little work has been conducted examining how epigenetics affects hearing. In this review, we discuss both the basic tenants of epigenetics and highlight the most recent advances in this field. We discuss its importance to human development, genomic stability, gene expression, epigenetic modifying agents as well as briefly introduce the expansive field of cancer epigenetics. We then examine the evidence of a role for epigenetics in hearing related processes and hearing loss. The article concludes with a discussion of areas of epigenetic research that could be applied to hearing research.

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Facioscapulohumeral Muscular Dystrophy and Accompanying Hearing Loss

Cited by 33 publications

References 26 publications

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

The Auditory, Vestibular, and Oculomotor System in Facioscapulohumeral Dystrophy

A role for epigenetics in hearing: Establishment and maintenance of auditory specific gene expression patterns

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