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Autosomal Recessive Nonsyndromic Hearing Loss 23

Disease Details

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Description: Autosomal recessive nonsyndromic hearing loss 23 is a genetic condition characterized by hearing impairment that is not associated with other clinical symptoms.
Type: Autosomal Recessive Nonsyndromic Hearing Loss 23 is transmitted through autosomal recessive inheritance.
Signs And Symptoms: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is characterized by hearing loss that typically presents at birth or in early childhood. The primary symptom is bilateral sensorineural hearing loss, which means hearing loss in both ears due to damage or dysfunction of the inner ear or the auditory nerve. This form of hearing loss is "nonsyndromic," meaning it occurs without other associated medical or physical findings.

Signs and Symptoms:
1. Bilateral sensorineural hearing loss present from birth or early childhood
2. Difficulties in speech and language development due to hearing impairment

No other systemic or syndromic features are associated with DFNB23, differentiating it from syndromic forms of hearing loss that might include other physical or developmental abnormalities.
Prognosis: Autosomal Recessive Nonsyndromic Hearing Loss 23 (DFNB23) is characterized by sensorineural hearing loss with no other associated symptoms or syndromes. The prognosis for individuals with DFNB23 primarily involves the degree of hearing loss, which can vary from mild to profound. Early diagnosis and intervention, such as the use of hearing aids or cochlear implants and speech therapy, play a crucial role in improving language development and quality of life. Regular monitoring and supportive educational and social services are recommended to ensure optimal outcomes.
Onset: The onset of autosomal recessive nonsyndromic hearing loss 23 (DFNB23) typically occurs at birth (congenital). This type of hearing loss is usually present from a very early age and is non-progressive.
Prevalence: The prevalence of Autosomal Recessive Nonsyndromic Hearing Loss 23 (DFNB23) is not specifically documented and might be considered rare. This genetic condition, resulting from mutations in the PCDH15 gene, generally contributes to the broader category of autosomal recessive nonsyndromic hearing loss, which varies widely in prevalence and can be influenced by population and specific genetic backgrounds. "NAN" (Not A Number) indicates that specific prevalence data is not available or quantified.
Epidemiology: Epidemiology data specific to "autosomal recessive nonsyndromic hearing loss 23" (DFNB23) is limited. DFNB23 is a subtype of autosomal recessive nonsyndromic hearing loss, which overall is one of the most common forms of genetic hearing loss. Autosomal recessive inheritance indicates that two copies of the defective gene, one from each parent, are necessary for the condition to manifest. Generally, nonsyndromic hearing loss affects about 1 in 1,000 to 2,000 newborns. The specific prevalence of DFNB23 within this group is not well-documented, as it is one subtype among many genetic causes of hearing loss. The gene associated with DFNB23 is often linked to the PCDH15 gene, which plays a crucial role in inner ear function.
Intractability: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is not necessarily considered intractable; however, it currently lacks a cure. Management typically focuses on interventions such as hearing aids, cochlear implants, and supportive therapies to mitigate hearing loss and improve quality of life. Research into gene therapy and other treatments is ongoing.
Disease Severity: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is characterized by moderate to profound sensorineural hearing loss. The severity can vary, but it generally leads to significant hearing impairment from birth or early childhood.
Pathophysiology: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is primarily caused by mutations in the MYO15A gene, which encodes myosin XVA, a protein critical for hair cell function in the inner ear. These hair cells are responsible for converting sound waves into electrical signals that the brain can interpret as sound. Mutations in MYO15A disrupt the normal functioning and structure of these hair cells, leading to hearing loss without any other associated symptoms or syndromic features.
Carrier Status: Carrier status refers to individuals who carry one copy of a mutated gene associated with an autosomal recessive disorder, such as autosomal recessive nonsyndromic hearing loss 23 (DFNB23), but do not exhibit symptoms of the condition. In the context of this disorder, carriers possess one normal allele and one mutated allele of the relevant gene, which typically means they have normal hearing. For a child to be affected by DFNB23, they must inherit two copies of the mutated gene, one from each carrier parent.
Mechanism: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is primarily associated with mutations in the WHRN gene, which encodes the whirlin protein. The whirlin protein plays a crucial role in the development and function of hair cells in the inner ear, particularly in the stereocilia, which are essential for the mechanotransduction process that converts sound waves into electrical signals that the brain can interpret.

**Molecular Mechanisms:**
1. **Gene Mutation:** Mutations in the WHRN gene disrupt the normal synthesis or function of the whirlin protein.
2. **Protein Dysfunction:** The lack of functional whirlin protein impairs the development and maintenance of stereocilia in hair cells.
3. **Cellular Impact:** Defective stereocilia lead to an inability of hair cells to effectively transduce mechanical sound stimuli into neural signals.
4. **Clinical Outcome:** The disruption in the auditory pathway results in hearing loss, which is characterized as nonsyndromic (not associated with other symptoms) and autosomal recessive (both copies of the gene must be mutated for the hearing loss to manifest).

These molecular mechanisms underline the critical role of the whirlin protein in auditory function and provide insight into the genetic basis of DFNB23-related hearing loss.
Treatment: For autosomal recessive nonsyndromic hearing loss 23 (DFNB23), the primary treatment approach focuses on managing and improving hearing capabilities. Options include:

1. **Hearing Aids**: Amplify sound to assist individuals with mild to moderate hearing loss.
2. **Cochlear Implants**: Recommended for those with severe to profound hearing loss, these devices bypass damaged hair cells in the cochlea to directly stimulate the auditory nerve.
3. **Speech and Language Therapy**: Helps improve communication skills, especially if hearing loss is identified early.
4. **Assistive Listening Devices (ALDs)**: Includes FM systems and other technologies to enhance hearing in specific situations.
5. **Regular Monitoring**: Audiometric evaluations to track hearing levels and adjust treatments as necessary.

Consultation with an audiologist or ENT specialist is crucial for personalized management planning.
Compassionate Use Treatment: For autosomal recessive nonsyndromic hearing loss 23 (ARNSHL23):

Compassionate Use Treatment:
Compassionate use allows patients with serious or life-threatening diseases to access investigational treatments when no comparable or satisfactory alternatives are available. Specific details for ARNSHL23 treatments might not be readily available, but patients can consult with their healthcare providers and check with regulatory agencies like the FDA or EMA for any compassionate use programs.

Off-Label or Experimental Treatments:
Off-label treatments involve the use of approved medications for unapproved indications. However, as ARNSHL23 is a genetic form of hearing loss, traditional medications are generally ineffective. More focused approaches include:

1. Gene Therapy: Experimental approaches that aim to correct or compensate for the genetic defect causing hearing loss.
2. Cochlear Implants: Though standard for severe hearing loss, they can be considered an off-label approach in genetic cases to improve hearing.
3. CRISPR-Cas9: Experimental gene-editing technology holds potential but is still in the research phase.

Patients should discuss these options with healthcare professionals to understand risks and benefits.
Lifestyle Recommendations: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is a form of genetic hearing loss. Here are some lifestyle recommendations tailored for individuals with this condition:

1. **Hearing Aids and Cochlear Implants**: Use appropriate hearing aids or cochlear implants as recommended by an audiologist. These devices can significantly enhance communication and quality of life.

2. **Regular Audiological Check-ups**: Schedule regular visits with an audiologist to monitor hearing levels and adjust hearing aids or implants as necessary.

3. **Visual and Vibrational Alerts**: Utilize visual or vibrational alerts for alarms, doorbells, and other important signals to ensure safety and independence at home.

4. **Sign Language and Communication Strategies**: Learn and use sign language or other communication strategies such as lip-reading to facilitate better communication in various settings.

5. **Support Services and Community**: Engage with support groups and communities for individuals with hearing loss to share experiences, resources, and emotional support.

6. **Assistive Technology**: Make use of assistive listening devices, captioned telephones, and other technology to improve communication in educational and occupational environments.

7. **Noise Control**: Manage and reduce exposure to excessively loud environments to protect any residual hearing capability.

8. **Education and Training**: Inform family, friends, and colleagues about the condition and effective communication methods to foster a supportive environment.

These recommendations aim to improve daily functioning and overall well-being for individuals affected by DFNB23.
Medication: Autosomal Recessive Nonsyndromic Hearing Loss 23 (ARNSHL 23) is a genetic condition characterized by hearing impairment without other associated syndromic features. Currently, there are no specific medications that can cure or treat the genetic basis of ARNSHL 23. Management typically focuses on supportive interventions such as hearing aids, cochlear implants, and speech therapy to improve communication abilities and quality of life.
Repurposable Drugs: Currently, there are no known repurposable drugs specifically for autosomal recessive nonsyndromic hearing loss 23 (DFNB23). This genetic condition primarily affects hearing, and management typically involves hearing aids, cochlear implants, and other assistive devices rather than pharmacological treatments. Research is ongoing, and future studies might identify repurposable drugs that could be beneficial.
Metabolites: For the condition autosomal recessive nonsyndromic hearing loss 23 (ARNSHL23), there is no specific information linking it to any abnormal metabolites or changes in metabolite levels. This form of hearing loss typically results from genetic mutations affecting the inner ear's function, rather than metabolic imbalances.
Nutraceuticals: For autosomal recessive nonsyndromic hearing loss 23 (DFNB23), there is currently no specific evidence supporting the use of nutraceuticals for treatment or prevention. This genetic condition is primarily managed through hearing aids, cochlear implants, and educational support tailored to the individual's needs.
Peptides: Autosomal recessive nonsyndromic hearing loss 23 (DFNB23) is primarily associated with mutations in the CLRN1 gene. This gene encodes a protein called clarin-1, which is involved in the function of hair cells within the inner ear. Mutations in CLRN1 can lead to the malfunction of these hair cells, causing hearing loss. Peptides associated with this condition are generally linked to the function or dysfunction of clarin-1 in the inner ear. "Nan" likely indicates that no additional information is provided or applicable in this context.