Hereditary Progressive Perceptive Deafness in a Family of 72 Patients

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Abstract
Of a family comprising 72 members, 12 females and 13 males were found to suffer from a hereditary progressive perceptive deafness. The inheritance is autosomal dominant, with complete penetrance. The development of the hearing loss follows a certain pattern. It involves the highest frequencies first, and at a later stage an additional low tone loss develops. Recruitment, demonstrated by the Metz recruitment test, was present in all the patients tested. Perstimulatory adaptation test (tone decay test) showed normal values in frequencies with a hearing loss less than 50 dB, but in several frequencies with a more pronounced hearing loss, there was a pathological threshold shift. The audiological results point towards a degenerative lesion in the cochlea, with a possible additional degenerative lesion in the more central structures when the hearing loss becomes more pronounced.