Deafness, autosomal dominant nonsyndromic sensorineural

Deafness, Autosomal Dominant Nonsyndromic Sensorineural (ADNSHL) is a form of hearing loss that is nonsyndromic, meaning it does not occur with other symptoms, and is sensorineural, indicating it arises from issues in the inner ear or related neural pathways. This condition is characterized by its pattern of inheritance, which is autosomal dominant. This means a single copy of the altered gene in each cell is sufficient to cause the disorder, and it can be passed on by just one affected parent.

Causes

ADNSHL is caused by mutations in various genes. These genes are involved in the development and function of the inner ear structures or the auditory nerve, which transmits sound from the ear to the brain. The specific gene mutation can influence the age of onset, severity, and progression of hearing loss. Some of the genes associated with ADNSHL include GJB2 (connexin 26), GJB6 (connexin 30), and WFS1 (Wolfram syndrome 1 gene), among others.

Symptoms

The primary symptom of ADNSHL is a progressive sensorineural hearing loss that can vary widely in severity. The hearing loss is often bilateral (affecting both ears) and can range from mild to profound. The onset of hearing loss can occur at any age, from infancy to adulthood, depending on the specific genetic mutation and other factors.

Diagnosis

Diagnosis of ADNSHL involves a comprehensive audiological evaluation to assess the type and severity of hearing loss. Genetic testing may be recommended to identify specific gene mutations, which can provide information about the pattern of inheritance and guide counseling for affected individuals and their families.

Treatment

While there is no cure for ADNSHL, there are several management options available to help individuals with this condition. These include the use of hearing aids, cochlear implants, and other assistive listening devices. Speech therapy and other educational interventions may also be beneficial, especially for children diagnosed with hearing loss.

Genetic Counseling

Genetic counseling is an important aspect of care for families affected by ADNSHL. It can provide information about the inheritance pattern, risks to other family members, and the implications for future pregnancies.