Congenital Deafness and Recent Advances Towards Restoring Hearing Loss

Comprehensive Hearing Loss and Deafness Panel Plus

Deafness and Hereditary Hearing Loss Overview

Clinical characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language de...

Preventing Hearing Loss and Restoring Hearing: A New Outlook

People with hearing loss represent one of the largest disability groups worldwide, and the prevalence of hearing loss is predicted to rise with an ageing population. Substantial progress has been made towards understanding some of the biological processes involved in the development of hearing impairment as well as therapeutic ways to prevent or mitigate the hearing loss. For example, we now ha...

Conversion deafness presenting as sudden hearing loss.

Conversion deafness is a somatoform disorder characterized by hearing loss without an anatomic or pathophysiologic lesion. Clinically, discrepancies between behavior hearing thresholds and objective electrophysiologic examinations, such as impedance audiometry, otoacoustic emissions (OAE), and auditory brainstem response (ABR), will raise the suspicion of this disorder. It is judged to be due t...

Congenital myasthenic syndromes: recent advances.

Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Mutations of the acetylcholine receptor (AChR) that increase or decrease the synaptic response to acetylcholine (ACh) are a common cause of the postsynaptic CMS. An increased response occurs in the slow-channel syndromes. Here, dominant mutations in different AChR subunits and in different domai...