The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy

Author(s): Huygen, P. L. M., Padberg, G. W.

Journal/Book: Acta Oto-Laryngol. 1995; PO Box 2959 Toyen, Journal Division, Customer Service, N-0608 Oslo, Norway. Scandinavian University Press. 140-142.

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.

Note: Article WIM Verhagen, Canisius Wilhelmina Hosp, Dept Neurol, POB 9015, 6500 GS Nijmegen, Netherlands

Keyword(s): hearing loss; brain-stem auditory evoked potentials; vestibulo-ocular reflux gain; genetics; MUSCULAR-DYSTROPHY; HEARING-LOSS; COATS SYNDROME; TORTUOSITY; DEAFNESS

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