Cochlear function in facioscapulohumeral muscular dystrophy.
OBJECTIVE
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.


METHODS
Prospective, randomized clinical trial.


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


METHODS
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.


METHODS
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.


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


RESULTS
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.


CONCLUSIONS
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.
Balatsouras
Dimitrios G
DG
Department of Otolaryngology-Head and Neck Surgery, Tzanion General Hospital, Piraeus, Greece. balats@panafonet.gr
Korres
Stavros
S
Manta
Panayota
P
Panousopoulou
Angeliki
A
Vassilopoulos
Dimitrios
D
D000161:Acoustic Stimulation / Q000379:methods; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone / Q000379:methods; D001309:Auditory Threshold / Q000502:physiology; D003051:Cochlea / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D006316:Hearing Loss, High-Frequency / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000453:epidemiology* / Q000235:genetics*; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology; D011446:Prospective Studies; D012720:Severity of Illness Index