Hearing and balance function in Alström syndrome

Claes Möller, Anita Dath, Berit Rönnåsen, Lil Falkensson

The Swedish doctor Carlh-Henry Alström described in 1959 a boy with symptoms resembling but distinct from Laurence-Moon-Bardet-Biedel syndrome (LMBB). This boy had a hearing loss but no signs of developmental problems. The phenotype of Alström syndrome shows dysfunction in many organs. The combination of visual and auditory dysfunction makes Alström syndrome belong to the group of deafblind syndromes.

The Swedish national team have so far identified seven families with Alström syndrome. Extensive pedigrees have shown that there is no direct relationship between the families. The affected have many trades in common like obesity, early myocardial insufficiency, early vision loss, multiple infections etc. Due to the early symptoms of severe vision loss the visual impairment was in most cases prominent causing the discovery of hearing loss in many cases was not disclosed until after several years.

Hearing

The hearing loss is in all affected showed symmetric, sensorineural hearing loss. The hearing loss is in all cases progressive. The results of special hearing tests and the localisation of the hearing impairment will be discussed.

Balance

The balance organ in the inner ears contributes together with vision and proprioception to a good balance. The balance organ (vestibular organ) shows a progressive decline in function. Together with a visual impairment (blindness) this will result in a progressive unsteadiness. The consequences of this will be discussed.

The rapid deterioration of vision (blindness) together with a progressive hearing loss and progressive balance dysfunction makes communication extremely difficult for affected with Alström syndrome. It is of uttermost importance that the hearing loss will be discovered early, in order to ensure a proper habilitation which includes state of the art technical equipment (hearing aids, cochlear implants etc) as well as teaching of sign language. Which then, when blindness has occurred a tactile sign language communication can be used. An early diagnose will provide prognosis and also a better habilitation in order to ensure a rich life for affected with Alström syndrome.