The study of deafness in patients with facioscapulohumeral dystrophy

: We studied 40 members of 12 families with FSHD, 23 symptomatic and 17 healthy. Tonal audiometry was done at a 4-year interval. Brainstem evoked potentials were recorded. The auditory function of healthy subjects was normal. Ten patients (25%) had sensorineural deafness, all bilateral; 2 were from one family and 3 from another. The significant incidence of deafness in this series of FSHD (p < 0.05) shows that deafness is an important feature of FSHD. Deafness did not seem to be related with the intensity of muscular symptoms. The pathogenesis of the disorder is unknown, but it is thought to be related to a mechanism of neural degeneration or of immunologic abnormality (Coat's syndrome).