Cochlear function in facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is commonly associated with high-frequency hearing impairment. Our objective was to evaluate a group of normally hearing patients with FSHD using otoacoustic emissions.

Prospective, randomized clinical trial.

A tertiary University-based referral center in Athens, Greece.

The study group consisted of a consecutive sample of 24 patients diagnosed on clinical, histopathologic, and genetic grounds as having FSHD. All subjects were selected on the basis of normal to near normal audiometric pure tone thresholds. Controls consisted of 40 age-matched healthy volunteers.

Transiently evoked otoacoustic emissions were performed. Whole reproducibility and total response were measured, as well as partial scores at the octave bands centered at 1, 2, 3, 4, and 5 kHz.

Transiently evoked otoacoustic emission measurements were compared between the two groups.

The audiometric findings were normal to near normal for both groups. Compared with controls, most patients had diminished scores in both whole and partial reproducibility scores and overall and partial response scores.

Despite normal hearing, subclinical involvement of the cochlea is quite common in patients with FSHD. Our findings support the genetic homogeneity of this disorder and its association with cochlear damage. Otoacoustic emissions might provide a useful tool in the clinical workup and follow-up of these patients.