Original Paper

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function
Carlo P. Trevisan^a, Ebe Pastorello^a, Mario Ermani^a, Corrado Angelini^a, Giuliano Tomelleri^b, Paola Tonin^b, Tiziana Mongini^c, Laura Palmucci^c, Giuliana Galluzzi^d, Rossella G. Tupler^e, Gino Marioni^f, Alessandro Rimini<sup>g

a</sup>Department of Neurological and Psychiatric Sciences, University of Padua, Padua,
^bDepartment of Neurological and Visual Sciences, University of Verona, Verona,
^cDepartment of Neurosciences, University of Turin, Turin,
^dInstitute of Neurology, Catholic University, Policlinico Gemelli, Rome,
^eLaboratory of Neurogenetics, University of Modena and Reggio Emilia, Modena,
^fDepartment of Medical and Surgical Specialties, Section of Otolaryngology, University of Padua, and
^gUnit of Otolaryngology, S. Antonio Hospital, Padua, Italy

Address of Corresponding Author

Audiol Neurotol 2008;13:1-6 (DOI: 10.1159/000107431)

  Key Words

• Facioscapulohumeral muscular dystrophy
• Audiometry
• Hearing loss
• Review

  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.

Copyright © 2008 S. Karger AG, Basel

  Author Contacts

Prof. C.P. Trevisan
Università di Padova, Clinica Neurologica II - Osp. S. Antonio
Via Facciolati, 72
IT-35100 Padova (Italy)
Tel. +39 049 821 6494, Fax +39 049 821 5316, E-Mail carlopietro.trevisan@unipd.it

  Article Information

Received: November 24, 2006
Accepted after revision: April 20, 2007
Published online: August 22, 2007
Number of Print Pages : 6
Number of Figures : 2, Number of Tables : 3, Number of References : 25