The Auditory, Vestibular, and Oculomotor System in Facioscapulohumeral Dystrophy

Abstract

Auditory, vestibular and oculomotor function tests were performed in 14 FSHD patients (7 men, 7 women, aged 19-74 years) with autosomal dominant Facioscapulohumeral dystrophy (FSHD) due to chromosome 4q35 associated DNA rearrangements. (Cochlear) sensorineural hearing loss (SNHL) in excess of that expected for their age was found in 6 patients: in 3 at the higher frequencies and in 3 also at the lower (speech) frequencies. Brain-stem auditory evoked potentials were generally normal. Oculomotor functions were normal. Four patients showed vestibular hyperreflexia, perhaps secondary to diminished head movements. Despite the apparent genetic homogeneity of the present patients, the above-mentioned findings showed significant associations with certain families, the cases of new mutations, or a certain generation. Therefore, FSHD in our patients demonstrated clinical heterogeneity.

Key Words:

• hearing loss
• brain-stem auditory evoked potentials
• vetibulko-ocular reflex gain
• genetics