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Autosomal Recessive Nonsyndromic Hearing Loss 18a

Disease Details

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Description: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) is a hereditary hearing impairment caused by mutations in the USH1C gene, characterized by moderate to profound sensorineural hearing loss without other associated clinical features.
Type: Autosomal recessive nonsyndromic hearing loss 18a (ARNSHL18A) is characterized by the following type of genetic transmission:

- Type of genetic transmission: Autosomal recessive
Signs And Symptoms: Autosomal Recessive Nonsyndromic Hearing Loss 18A (DFNB18A) is a genetic condition characterized by hearing impairment that is not associated with other systemic abnormalities. Here are the signs and symptoms:

- Hearing Loss: The primary symptom is progressive, moderate to severe sensorineural hearing loss.
- Onset: Often detected during infancy or early childhood.

Non-Auditory Symptoms: There are typically no other associated physical, developmental, or neurological abnormalities, as the condition is nonsyndromic.
Prognosis: Prognosis for autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) primarily involves the degree of hearing loss, which can vary from mild to profound. The condition remains stable throughout life, but with early intervention, including hearing aids or cochlear implants, individuals can achieve improved communication and quality of life. Early diagnosis and intervention are key to optimizing speech and language development.
Onset: The onset of autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) typically occurs prelingually, meaning it is present at birth or begins in early infancy, before the child develops speech.
Prevalence: The prevalence of Autosomal Recessive Nonsyndromic Hearing Loss 18A (DFNB18A) is not well-defined in the general population. This condition is relatively rare and specific prevalence data is not readily available. Since the prevalence is not well-documented, it can be indicated as not available (nan).
Epidemiology: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) is a rare genetic condition primarily affecting the inner ear, leading to hearing loss. Exact prevalence data is limited, making it difficult to provide detailed epidemiological information. It is more commonly observed in specific populations with a higher incidence of consanguineous marriages due to the nature of autosomal recessive inheritance.
Intractability: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) is typically caused by mutations in the gene USH1C. While the condition itself refers to hearing loss that is inherited in an autosomal recessive manner and is not associated with other syndromic features, the specific intractability can vary. Current medical and auditory therapies may manage symptoms, but a definitive cure is generally not available. Genetic counseling and the use of hearing aids or cochlear implants can improve quality of life for affected individuals.
Disease Severity: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) primarily causes prelingual, severe to profound hearing loss.
Pathophysiology: Autosomal recessive nonsyndromic hearing loss 18a (DFNB18A) is linked to mutations in the gene encoding the protein otoferlin (OTOF). Otoferlin plays a critical role in synaptic vesicle release and neurotransmitter exocytosis in inner hair cells of the cochlea, essential for transmitting auditory signals to the brain. Mutations in OTOF disrupt this process, leading to impaired auditory signal transmission and consequent hearing loss. Hearing impairment associated with DFNB18A typically presents from birth and does not involve other symptoms or syndromic features.
Carrier Status: Carrier status for autosomal recessive nonsyndromic hearing loss 18A (ARNSHL 18A) typically means the individual has one mutated copy of the gene associated with this condition but does not exhibit hearing loss themselves. Carriers can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit the condition, a 50% chance that the child will be a carrier, and a 25% chance that the child will not inherit the mutated gene.
Mechanism: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) is primarily caused by mutations in the TMC1 gene, which encodes the transmembrane channel-like protein 1.

**Mechanism:**
- DFNB18A is inherited in an autosomal recessive manner, meaning an individual must inherit two mutated copies of the TMC1 gene (one from each parent) to exhibit the condition. Carriers, with only one mutated copy, typically do not show symptoms.

**Molecular Mechanisms:**
- The TMC1 gene is critical for the normal function of hair cells in the inner ear. These hair cells play a crucial role in converting sound waves into electrical signals that the brain can interpret as sound.
- Mutations in TMC1 disrupt the function of the encoded protein, impairing the ability of hair cells to transduce mechanical sound vibrations into neural signals.
- This disruption leads to hair cell dysfunction and eventually hair cell death, resulting in the loss of the ability to perceive sound and subsequent hearing loss.
Treatment: Treatment for autosomal recessive nonsyndromic hearing loss 18A primarily involves addressing the hearing loss itself, as there are no treatments for the underlying genetic cause. Options typically include:

1. **Hearing Aids:** Amplify sound for individuals with mild to moderate hearing loss.
2. **Cochlear Implants:** Recommended for those with severe to profound hearing loss who do not benefit from hearing aids.
3. **Assistive Listening Devices:** Additional devices to help in specific situations, such as FM systems in classrooms.
4. **Speech Therapy:** To support language development and communication skills.
5. **Genetic Counseling:** For affected individuals and their families to understand the condition and implications for family planning.

A multidisciplinary approach including audiologists, speech therapists, and genetic counselors is often beneficial.

The abbreviation "nan" is unclear in this context. If "nan" refers to "not a number" or "not applicable," it does not provide additional specific information relevant to the treatment of this condition.
Compassionate Use Treatment: Autosomal recessive nonsyndromic hearing loss 18A (ARNSHL18A) is a form of genetic hearing loss. Currently, the primary treatments are focused on symptom management rather than specific curative options. For compassionate use, off-label, or experimental treatments, here are some areas being explored:

1. **Gene Therapy**: Research is ongoing into gene therapy, which aims to correct the genetic defect responsible for hearing loss.

2. **Cochlear Implants**: These are used for severe cases where traditional hearing aids are ineffective. They are not experimental but are a critical management strategy.

3. **Stem Cell Therapy**: Experimental approaches utilizing stem cells to regenerate damaged cochlear hair cells are being studied.

4. **Pharmacotherapy**: There is ongoing research into drugs that might protect or regenerate hair cells in the inner ear, although these are still largely experimental.

Patients interested in experimental treatments may consider participating in clinical trials. It is critical to consult healthcare professionals to explore the most current and appropriate options.
Lifestyle Recommendations: Autosomal recessive nonsyndromic hearing loss 18A (DFNB18A) is a genetic condition primarily affecting hearing without other associated syndromic features. Here are some potential lifestyle recommendations for individuals diagnosed with DFNB18A:

1. **Early Intervention and Education:** Ensure early diagnosis and intervention. Early use of hearing aids or cochlear implants can significantly improve language development and communication skills.

2. **Regular Audiological Monitoring:** Regular check-ups with an audiologist to monitor hearing levels and adjust hearing devices as needed.

3. **Sign Language:** Learning sign language can offer an effective mode of communication, especially in communities or families where it is commonly used.

4. **Assistive Technology:** Use assistive listening devices like hearing aids, cochlear implants, and other communication tools to improve hearing and speech comprehension.

5. **Safe Listening Practices:** Avoid exposure to loud noises and environments that could further impair hearing. Use ear protection when necessary.

6. **Education and Support Programs:** Engage with educational programs and support groups that cater to the needs of individuals with hearing loss to foster social integration and emotional well-being.

7. **Healthy Living:** Maintain a healthy lifestyle with proper nutrition, regular exercise, and avoiding ototoxic medications or substances that could potentially worsen hearing.

8. **Family and Social Support:** Encourage family members to learn about hearing loss and effective communication strategies to provide a supportive environment.

Always consult healthcare professionals for tailored advice and interventions suitable for individual needs.
Medication: Currently, there is no specific medication to treat autosomal recessive nonsyndromic hearing loss 18A (DFNB18A). Management typically involves the use of hearing aids or cochlear implants and other supportive therapies like speech therapy and educational support to help individuals manage their hearing loss.
Repurposable Drugs: As of now, there are no specific repurposable drugs identified for Autosomal Recessive Nonsyndromic Hearing Loss 18A (ARNSHL 18A). The primary treatment for this genetic condition typically focuses on hearing aids, cochlear implants, and other supportive measures to manage hearing loss rather than pharmacological interventions. Research is ongoing, and future discoveries may potentially identify repurposable drugs for this condition.
Metabolites: Information about specific metabolites associated with autosomal recessive nonsyndromic hearing loss 18a (ARNSHL 18A) is very limited or not well defined. ARNSHL 18A is primarily characterized by genetic mutations affecting hearing, rather than alterations in specific metabolites. The condition is generally associated with mutations in genes such as STRC, which play a crucial role in the function of hair cells in the inner ear. Further metabolic studies may be needed to provide detailed information if any metabolites are involved.
Nutraceuticals: For autosomal recessive nonsyndromic hearing loss 18A (ARNSHL 18A), there is no specific evidence or established treatment suggesting that nutraceuticals can reverse or effectively manage the condition. Nutraceuticals are products derived from food sources that offer health benefits in addition to their basic nutritional value, but their role in genetic hearing loss is not well-supported by scientific studies.
Peptides: Autosomal Recessive Nonsyndromic Hearing Loss 18A (DFNB18A) is a genetic condition characterized by hearing loss that is not associated with other symptoms (nonsyndromic). It is caused by mutations in the gene TMC1. This disorder follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to show signs of the condition.

There isn't specific peptide-based treatment or therapeutic that is widely recognized for DFNB18A. As of now, management primarily focuses on supportive therapies such as hearing aids, cochlear implants, and other assistive listening devices to help improve communication abilities for affected individuals.