Abstract
Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. However, etiopathogenetic mechanisms of auditory dysfunction are still not completely understood and it has been suggested that it could be assigned to a cochlear alteration that is present even in those subjects with a normal pure tonal audiometry (PTA) examination. We found out the cochlear function in 26 patients with molecular diagnosis of FSHD1 and in healthy controls. All patients underwent complete neurological and audiological examinations, including FSHD clinical score, pure-tone audiometry (PTA), and otoacoustic emissions (OAEs), in particular transient evoked otoacoustic emissions (TEOAEs) and distortion product evoked otoacoustic emissions (DPOAEs). All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only subjects with a normal PTA or a mild muscular involvement (FSHD score ≤ 2). No correlation between OAEs and FSHD clinical score was found. Cochlear echoes represent a sensitive tool in detecting subclinical cochlear dysfunction in FSHD1 even in subjects with normal hearing and/or subtle muscle involvement. Our study is focused on the importance of evaluating the cochlear alteration through OAEs and, in particular, by performing TEOAEs and DPOAEs sequentially, to evaluate more frequent specificities of cochlear dysfunction with a wider spectrum of analysis.
Highlights
Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment
Previous studies have assessed auditory function in several neuromuscular diseases including FSHD1; cochlear function has rarely been explored in muscular dystrophies [13] and a single study has reported this issue in FSHD by performing transient evoked otoacoustic emissions (TEOAEs) analysis [14]. To explore this clinical aspect, we studied outer hair cells’’ (OHCs) function in a cohort of FSHD1 patients by performing TEOAEs and, to amplify the spectrum of observation, distortion product evoked otoacoustic emissions (DPOAEs)
Considering only subjects with normal pure tonal audiometry (PTA), either patients or HC, we found in the former one a significant reduction of TEOAEs ( p ranging between < 0.05 and < 0.0001, depending on frequency) and DPOAEs ( p < 0.001), for each frequency (Fig. 3, A and B)
Summary
Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. All patients underwent complete neurological and audiological examinations, including FSHD clinical score, pure-tone audiometry (PTA), and otoacoustic emissions (OAEs), in particular transient evoked otoacoustic emissions (TEOAEs) and distortion product evoked otoacoustic emissions (DPOAEs). We certify that this report is original and the manuscript, or part of it, or closely related papers, has neither been published nor is currently under consideration for publication by any other journal. I have no commercial associations, contractual relations, or proprietary considerations that might pose a conflict of interest related or unrelated with the submitted manuscript, and have had no involvements that might raise the question of bias in the work reported or in the conclusions, implications, or opinions stated.
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