Nonsyndromic hereditary sensorineural hearing loss

Overview

An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, we have begun to understand the fascinating biology of the auditory system and unveiled new molecular mechanisms of hearing impairment. Changes in the diagnostic impact of genetic testing have occurred, as well as exciting developments in therapeutic options. Molecular diagnosis, which is already a reality for several hearing-associated genes, will doubtlessly continue to increase in the near future, both in terms of the number of mutations tested and the spectrum of genes. Genetic analysis for hearing loss is mostly used for diagnosis and treatment, and relatively rarely for reproductive decisions, in contrast to other inherited disorders. Inherited hearing loss, however, is characterized by impressive genetic heterogeneity. An abundance of genes carry a large number of mutations, but specific mutations in a single gene may lead to syndromic or non-syndromic hearing loss. Some mutations predominate in individual ethnic groups. For clinical and laboratory diagnosticians, it is challenging to keep abreast of the unfolding discoveries. This review aims to provide the framework pertinent to diagnosticians and a practical approach to mutation analysis in the hearing impaired

Symptoms

The list of signs and symptoms mentioned in various sources for Nonsyndromic hereditary hearing impairment includes the 2 symptoms listed below:

• Impaired hearing
• Deafness

Diagnosis

Home medical tests related to Nonsyndromic hereditary hearing impairment:

Ear Infections:

Home Testing, Home Ear Infection Tests Home Ear Tests, Home Hearing Tests

Treatment

Deafness is the only sensory defect that can be treated successfully even if the deafness is complete. A recent cochlear implant study in children of 8 to 9 years of age who received their implants before the age of five, demonstrated that all children benefited from cochlear implantation in the areas of speech production, speech perception, and language. There was a significant positive difference in cognitive and reading performance in children with identified GJB2 mutations, which cause an isolated insult to the cochlea without damage to the VIIIth nerve or the central auditory system. Even though the hearing loss in other children may be non-syndromic and isolated in appearance, the underlying etiologies are likely to include asymptomatic congenital cytomegalovirus (CMV) and undiagnosed meningitis. Thus, these children are likely to face SNHL with subtle additional disabilities due to central effects.59 Cochlear implant surgery has also been performed in patients with MELAS, maternally inherited diabetes and deafness, Kearns-Sayre syndrome, and chronic progressive external ophthalmoplegia. Even though a variety of mutations can cause mitochondrial hearing loss and although variable severity as well as progression after initial onset are characteristic, cochlear implant surgery has been highly beneficial. This strongly suggests that the pathological changes resulting from the mtDNA mutations primarily affect the cochlea