Autosomal dominant midfrequency hearing impairment.

At present, 48 different gene loci have been localised and nine gene mutations have been characterised for non-syndromic hearing impairment. We have identified a large five-generation family with mid-and high-frequency hearing impairment. Family members were considered to be affected only if they had bilateral sensorineural hearing loss below the 90th percentile of an age and sex-dependent control audiometric curve of ISO class B. The inheritance of hearing impairment was autosomal dominant. Of seven affected individuals, six were females and one was male. The hearing loss among affected family members was bilateral, sensorineural and varies from mild to moderate. The type of audiogram was U-shaped. Genetic linkage studies are in progress and our preliminary data show exclusion in chromosome 6, chromosome 11 and chromosome 19 in already known loci for midfrequency hearing impairment. This means, we are mapping a novel locus for autosomal dominant midfrequency hearing impairment.

Hereditary hearing loss--the role of environmental factors.

A large family with mid onset sensorineural hearing loss (HL) was used to study the effect of environmental factors on progression HL. Data from five-generations of one family were traced and 104 living members were included in the study. Audiograms were measured for 60 family members. We used an expert program to study the individual risk factors, which included the known risk factors for sensorineural HL. The pattern of inheritance in this HL family was autosomal dominant and 22 individuals were affected. The HL among affected individuals was symmetrical and varied from mild to severe. The mean age at onset of HL was 22 years. The mean deterioration of hearing at 2 kHz frequency was 1 dB/year. In the risk analysis the use of NSAID-analgetics and military noise exposure correlated with HL. There was no correlation between occupational and free time noise-exposure and HL. Analgetics may aggravate the HL in subjects with inherited HL. This type of genetic lesion is new and is not in those chromosomal areas already documented in the literature.

Postural stability, neck proprioception and tension neck.

We examined whether tension neck (TN) may due to inadequate proprioceptive and vestibular activation of the cervico-collic reflex (CCR). CCR and vestibulospinal responses (VSRs) were recorded from 106 forest workers by stimulating the neck, lumbar or calf proprioceptors by vibration. The VSRs were recorded with posturography. TN occurred in 27 out of 106 subjects. The subjects with TN (48.5 years) were older than those without TN (43.1). The mean body sway during quiet stance was the same in both groups during the neck stimulation. In subjects with tension neck stimulation of neck or lumbar proprioceptors caused excessive, unpredictable body excursion in the lateral and anteroposterior direction that continued after stimulation. Results from stimulation of lower limb proprioceptors did not significantly differ between the 2 groups. In logistic regression analysis a model to predict TN consisting of perstimulatory postural stability (odds ratio 1.4) and poststimulatory postural stability (odds ratio 1.8) turned out to be statistically significant. The anatomical findings of CCR in the medulla oblongata suggest that neck muscle afferents control the posture and muscle activity of the neck. The erroneus facilitation of proprioception in TN subjects indicate that TN may be raised by inadequate facilitation of CCR.