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.

Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function / C. P., Trevisan; E., Pastorello; M., Ermani; C., Angelini; G., Tomelleri; P., Tonin; T., Mongini; L., Palmucci; G., Galluzzi; Tupler, Rossella; G., Marioni; A., Rimini. - In: AUDIOLOGY & NEURO-OTOLOGY. - ISSN 1420-3030. - STAMPA. - 13:1(2008), pp. 1-6. [10.1159/000107431]

Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function

TUPLER, Rossella;
2008

Abstract

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.
2008
22-ago-2007
13
1
1
6
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function / C. P., Trevisan; E., Pastorello; M., Ermani; C., Angelini; G., Tomelleri; P., Tonin; T., Mongini; L., Palmucci; G., Galluzzi; Tupler, Rossella; G., Marioni; A., Rimini. - In: AUDIOLOGY & NEURO-OTOLOGY. - ISSN 1420-3030. - STAMPA. - 13:1(2008), pp. 1-6. [10.1159/000107431]
C. P., Trevisan; E., Pastorello; M., Ermani; C., Angelini; G., Tomelleri; P., Tonin; T., Mongini; L., Palmucci; G., Galluzzi; Tupler, Rossella; G., Marioni; A., Rimini
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/641563
Citazioni
  • ???jsp.display-item.citation.pmc??? 10
  • Scopus 36
  • ???jsp.display-item.citation.isi??? 30
social impact