GeneHealth - Your precision medicine

Autosomal Recessive Nonsyndromic Hearing Loss 12

Disease Details

Family Health Simplified

Buy Membership

Description: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) is a genetic hearing impairment caused by mutations in the CDH23 gene, affecting the sensory cells of the inner ear.

One-sentence description: DFNB12 is a hereditary hearing loss disorder resulting from CDH23 gene mutations, leading to impaired function of inner ear sensory cells.
Type: Autosomal recessive nonsyndromic hearing loss 12 is transmitted in an autosomal recessive pattern.
Signs And Symptoms: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) primarily manifests as hearing impairment. The signs and symptoms include:

- Congenital (present at birth) hearing loss
- Hearing loss that is sensorineural (related to the inner ear or auditory nerve)
- Typically, the hearing loss is severe to profound
- Hearing loss usually affects both ears (bilateral)

There are no additional systemic symptoms or associated syndromic features, as it is a nonsyndromic form of hearing loss.
Prognosis: Autosomal Recessive Nonsyndromic Hearing Loss 12 (DFNB12) typically results in congenital, severe to profound sensorineural hearing loss. The prognosis primarily focuses on early identification and intervention to facilitate speech and language development. While hearing loss is permanent, use of hearing aids or cochlear implants often significantly improves outcomes. The condition does not usually affect lifespan or general health outside of hearing impairment.
Onset: The onset of autosomal recessive nonsyndromic hearing loss 12 (DFNB12) typically occurs prelingually, meaning before the development of speech, and is usually evident at birth or early in infancy.
Prevalence: The prevalence of autosomal recessive nonsyndromic hearing loss 12 (ARNSHL12) is not specifically documented; thus, denoted as "nan" (not a number). In general, ARNSHL is relatively rare but varies widely depending on the population and genetic factors. Most cases of congenital hearing loss, including ARNSHL12, are estimated to occur in about 1 in 1,000 to 2,000 newborns globally.
Epidemiology: The epidemiology for autosomal recessive nonsyndromic hearing loss 12 (DFNB12) involves individuals who inherit two mutated copies of a specific gene from their parents. DFNB12 is relatively rare and contributes to congenital hearing loss, particularly within certain populations that may have higher frequencies of consanguineous marriages. The specific prevalence rates can vary widely across different ethnic and geographic groups. Detailed epidemiological data may not be widely available due to its rarity.
Intractability: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) is caused by mutations in the CDH23 gene. While the condition itself is not currently curable, management strategies such as hearing aids, cochlear implants, and speech therapy can significantly improve the quality of life for affected individuals. In this context, the disease is considered intractable in terms of a definitive cure, but amenable to management and rehabilitation interventions.
Disease Severity: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) typically presents with prelingual, severe to profound sensorineural hearing loss. It is generally non-progressive and affects both ears. The severity is generally profound, resulting in significant challenges in speech and language development without intervention such as cochlear implants or hearing aids.
Pathophysiology: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) is a genetic condition caused by mutations in the CDH23 gene. This gene encodes cadherin 23, a protein crucial for the function of hair cells in the inner ear, which are essential for normal hearing. Mutations in CDH23 disrupt the function of these hair cells, leading to a loss of mechanotransduction, the process by which sound waves are converted into electrical signals. As a result, individuals with DFNB12 experience sensorineural hearing loss. The hearing loss is typically present from birth and does not usually affect other systems, thus classified as nonsyndromic.
Carrier Status: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) carrier status means an individual has one normal allele and one mutated allele of the gene associated with DFNB12. Carriers do not typically exhibit symptoms of hearing loss but can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy for the child to inherit both mutated alleles and develop hearing loss associated with DFNB12.
Mechanism: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) is predominantly caused by mutations in the CDH23 gene, which encodes cadherin 23, a protein essential for the function and structure of hair cells in the inner ear. These hair cells are crucial for converting sound waves into nerve signals that the brain interprets as sound. Mutations in the CDH23 gene disrupt this process, leading to progressive or congenital hearing loss without associated syndromic features. Molecularly, the mutations often lead to defective or improperly functioning cadherin 23, resulting in impaired mechanotransduction in hair cells and ultimately leading to hearing impairment.
Treatment: Autosomal recessive nonsyndromic hearing loss 12 (ARNSHL12) is a genetic condition characterized by hearing loss that is not associated with other clinical findings. Treatment primarily focuses on managing the hearing loss, which may include:

1. **Hearing Aids:** Devices that amplify sound to help individuals with hearing loss hear more clearly.
2. **Cochlear Implants:** Surgical implants that directly stimulate the auditory nerve, bypassing damaged parts of the ear to provide a sense of sound to individuals with severe hearing loss.
3. **Assistive Listening Devices:** Tools such as FM systems and loop systems that can help improve the ability to hear in various situations.
4. **Speech Therapy and Aural Rehabilitation:** Programs designed to improve communication skills, including speechreading and auditory training.
5. **Regular Monitoring:** Continuous assessment by audiologists and other healthcare providers to monitor hearing and adjust treatment as necessary.
Compassionate Use Treatment: For autosomal recessive nonsyndromic hearing loss 12 (ARNSHL12), there currently are no specific compassionate use treatments, off-label, or experimental therapies widely recognized. Management of ARNSHL12 typically focuses on supportive measures such as hearing aids, cochlear implants, and speech therapy to improve quality of life and communication abilities. Genetic counseling may also be beneficial for affected individuals and their families. Research on potential gene therapies and other advanced treatments is ongoing, but these treatments remain largely experimental and not yet available for general use.
Lifestyle Recommendations: For individuals with autosomal recessive nonsyndromic hearing loss 12, focusing on supportive lifestyle recommendations can enhance quality of life. Here are some recommendations:

1. **Use of Hearing Aids or Cochlear Implants**: These devices can improve sound perception and communication abilities.

2. **Regular Hearing Assessments**: Periodic check-ups with an audiologist to monitor and manage hearing loss.

3. **Communication Strategies**:
- Learn and use sign language to facilitate communication.
- Employ lip-reading techniques.
- Use assistive listening devices, such as amplified phones or personal FM systems.
- Leverage captioning services for phones, television, and internet content.

4. **Education and Social Support**:
- Seek schools or programs that offer specialized support for hearing-impaired individuals.
- Join support groups or communities for social interaction and shared experiences.

5. **Environmental Adjustments**:
- Ensure good lighting to aid in lip-reading.
- Minimize background noise to improve auditory clarity.
- Use visual alarms for important signals like doorbells or smoke alarms.

6. **Stress Management**: Employ stress reduction techniques such as meditation or exercise to manage potential frustration or social isolation.

Implementing these strategies can help mitigate some of the challenges associated with hearing loss and promote better overall well-being.
Medication: For autosomal recessive nonsyndromic hearing loss 12 (DFNB12), there are currently no specific medications that can cure or reverse the condition. Management typically involves the use of hearing aids, cochlear implants, and various auditory rehabilitation strategies to help individuals cope with hearing loss. Genetic counseling may also be beneficial for affected families.
Repurposable Drugs: There are currently no widely recognized repurposable drugs for autosomal recessive nonsyndromic hearing loss 12 (DFNB12). This condition is primarily caused by genetic mutations, and treatment tends to focus on supportive measures such as hearing aids or cochlear implants rather than pharmacological interventions. Further research may lead to potential drug therapies in the future, but as of now, no specific repurposable drugs have been identified.
Metabolites: Autosomal recessive nonsyndromic hearing loss 12 (ARNSHL12) is a type of genetic hearing loss that does not generally involve other symptoms or health problems. Information regarding specific metabolites directly linked to ARNSHL12 is not well-documented. Hearing loss in this condition is primarily due to defects in the genes involved, rather than metabolic abnormalities.
Nutraceuticals: There are currently no specific nutraceuticals recommended for the treatment of autosomal recessive nonsyndromic hearing loss 12 (DFNB12). It is important to consult healthcare professionals for appropriate management and treatment options.
Peptides: Autosomal recessive nonsyndromic hearing loss 12 (DFNB12) is primarily associated with mutations in the CDH23 gene, which encodes cadherin 23. Peptides, in this context, refer to short sequences of amino acids that could be part of, or derived from, the protein cadherin 23. Understanding these peptides can aid in studying the structure and function of cadherin 23 and its role in hearing. However, "nan" is not a recognizable term in this context. Please provide additional information or clarify your query.