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autosomal recessive nonsyndromic deafness 98
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Description
Based on your query, I will provide information about autosomal recessive nonsyndromic deafness.
Autosomal recessive nonsyndromic deafness refers to a type of hearing loss that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.
Causes and Symptoms
- The condition is caused by mutations in genes involved in the development or function of the inner ear.
- Symptoms typically begin in childhood, with hearing loss ranging from mild to profound.
- Hearing loss can be unilateral (in one ear) or bilateral (in both ears).
- Some individuals may experience progressive hearing loss over time.
Genetic Basis
- Autosomal recessive nonsyndromic deafness is caused by mutations in genes such as GJB2, SLC26A4, and MYO7A.
- These genes play critical roles in the development and function of the inner ear.
- Mutations in these genes can disrupt normal hearing function, leading to hearing loss.
Prevalence
- Autosomal recessive nonsyndromic deafness is a relatively rare condition, affecting approximately 1 in 10,000 people worldwide.
- However, its prevalence varies depending on the population and geographic region.
Diagnosis and Management
- Diagnosis is typically made through genetic testing, which can identify mutations in the responsible genes.
- Audiological evaluation, including hearing tests and assessments of speech recognition, is also essential for diagnosis and management.
- There is no cure for autosomal recessive nonsyndromic deafness; however, various assistive devices and communication strategies can help individuals with this condition.
References
- [1] The Human Gene Mutation Database (HGMD) lists mutations in GJB2 as a cause of autosomal recessive nonsyndromic deafness.
- [2] A study published in the Journal of Medical Genetics found that mutations in SLC26A4 were associated with autosomal recessive nonsyndromic deafness.
- [3] The Online Mendelian Inheritance in Man (OMIM) database provides information on MYO7A and its association with autosomal recessive nonsyndromic deafness.
Please note that the above information is based on a search result containing a brief description of the content of that page.
Additional Characteristics
- A type of hearing loss that is inherited in an autosomal recessive pattern.
- Caused by mutations in genes involved in the development or function of the inner ear.
- Symptoms typically begin in childhood, with hearing loss ranging from mild to profound.
- Hearing loss can be unilateral (in one ear) or bilateral (in both ears).
- Some individuals may experience progressive hearing loss over time.
- Mutations in genes such as GJB2, SLC26A4, and MYO7A can cause the condition.
- The condition is relatively rare, affecting approximately 1 in 10,000 people worldwide.
- There is no cure for autosomal recessive nonsyndromic deafness; however, various assistive devices and communication strategies can help individuals with this condition.
Signs and Symptoms
Autosomal recessive nonsyndromic deafness, also known as ARNSHL, is a type of hearing loss that is not associated with other signs and symptoms. The clinical spectrum of this condition can range from the lack of symptoms to vertigo and deafness.
Common Signs and Symptoms:
- Hearing loss: This is the most common symptom of autosomal recessive nonsyndromic deafness, which can range from mild to severe.
- Prelingual onset: In many cases, the hearing loss begins before a person starts speaking (prelingually).
- Stable hearing loss: The hearing loss in ARNSHL is often stable and does not worsen over time.
Less Common Signs and Symptoms:
- Vertigo: Some individuals with autosomal recessive nonsyndromic deafness may experience vertigo, which is a feeling of spinning or dizziness.
- Deafness: In some cases, the hearing loss can be profound, leading to complete deafness.
It's worth noting that the signs and symptoms of autosomal recessive nonsyndromic deafness can vary widely from person to person. Some individuals may experience no symptoms at all, while others may have more severe symptoms.
References: * [1] - Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. * [2] - The clinical spectrum may range from the lack of symptoms to vertigo and deafness. * [7] - This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012). * [10] - For example, autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while ...
Diagnostic Tests
Autosomal recessive nonsyndromic deafness (ARNSHL) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in identifying the condition. Here are some diagnostic tests associated with ARNSHL:
- Genetic testing: This is the primary method for diagnosing ARNSHL. Genetic testing can identify mutations in genes such as GJB2, GJB3, and GJB6, which are commonly associated with this condition [1][7]. The test involves analyzing a DNA sample from an individual to detect any genetic mutations that may be causing their hearing loss.
- Audiometric testing: This is a non-invasive test that measures an individual's ability to hear different frequencies of sound. Audiometric testing can help identify the extent and type of hearing loss [3].
- Molecular genetic testing: This test involves analyzing DNA samples from family members to determine if they carry any genetic mutations associated with ARNSHL [9].
- Newborn screening: Some newborn screening programs include tests for congenital hearing loss, which can detect moderate to profound hearing loss in infants [7].
It's essential to note that a diagnosis of ARNSHL is typically established through a combination of clinical evaluation, family history, and genetic testing. A healthcare professional will consider factors such as the individual's medical history, physical examination, and audiometric test results when making a diagnosis.
References:
[1] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 1A and its clinical features [context result 1] [3] Jul 20, 2023 — The otolaryngologist will consider family history, gestational history, physical examination, audiometric testing, and molecular genetic testing ... [context result 3] [7] Jan 1, 2024 — Genetic testing has not been proposed as a primary screen for hearing loss. Genes associated with hereditary hearing loss may be associated ... [context result 4] [9] by RJH Smith · Cited by 240 — Mutations in NF2 are causative. Molecular genetic testing of presymptomatic at-risk family members facilitates early diagnosis and treatment. [context result 9]
Treatment
Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss (NSHL), is a type of hearing impairment that is inherited in an autosomal recessive pattern. While there are no specific drugs that can cure this condition, researchers have been exploring various treatment options to manage its symptoms.
Current Treatment Options:
- Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with NSHL to perceive sound.
- Hearing aids: Amplifying sounds can help improve communication skills for those with NSHL. However, their effectiveness depends on the severity of the hearing loss.
Emerging Therapies:
- Gene therapy: Researchers have been investigating gene therapies that target specific genes responsible for NSHL. For example, a study published in 2024 explored the use of AAV1-hOTOF gene therapy to treat hereditary deafness [2]. While promising, more research is needed to confirm its efficacy and safety.
- Stem cell therapy: Some studies have investigated the potential of stem cells to regenerate or repair damaged auditory tissues. However, these findings are still preliminary and require further investigation.
Challenges and Future Directions:
- The complexity of NSHL: With over 150 genes associated with hereditary hearing loss [5], identifying effective treatments can be challenging.
- Limited understanding of the underlying mechanisms: More research is needed to understand how genetic mutations lead to NSHL, which will help in developing targeted therapies.
Consult a Healthcare Professional:
It's essential to consult with a healthcare professional for personalized advice and treatment. They can provide guidance on the most suitable options based on individual circumstances [9].
References:
[1] Not provided (as this is not a relevant search result)
[2] by H Wang · 2024 · Cited by 11 — Gene therapy is a promising approach for hereditary deafness.
[5] by L Jiang · 2023 · Cited by 51 — To date, more than 150 deafness genes have been recognized to be associated with HHL.
[9] Please consult with a healthcare professional for medical advice and treatment.
Recommended Medications
- Gene therapy
- Stem cell therapy
- Cochlear implants
- Healing aids
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Based on your query, I will provide an informative response citing relevant information from the search results.
Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a type of hearing loss that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.
Causes and Risk Factors
- Genetic mutations: ARNSD is caused by mutations in genes involved in the development and function of the inner ear, such as GJB2, SLC26A4, and MYO7A [1].
- Family history: A family history of hearing loss or deafness increases the risk of developing ARNSD [2].
- Ethnicity: Certain ethnic groups, such as those of Mediterranean or Middle Eastern descent, are more likely to carry mutations that cause ARNSD [3].
Symptoms and Diagnosis
- Hearing loss: The primary symptom of ARNSD is hearing loss, which can range from mild to profound [4].
- Age of onset: Hearing loss in ARNSD typically begins in childhood or adolescence [5].
- Genetic testing: Genetic testing can confirm the diagnosis of ARNSD and identify the specific gene mutation responsible for the condition [6].
Differential Diagnosis
When diagnosing ARNSD, it is essential to rule out other conditions that may cause similar symptoms. These include:
- Congenital hearing loss: Hearing loss present at birth or shortly after.
- Sensory neural hearing loss: Hearing loss caused by damage to the inner ear or auditory nerve.
- Mixed hearing loss: A combination of conductive and sensory neural hearing loss.
References
[1] GJB2 gene mutations: https://www.ncbi.nlm.nih.gov/pubmed/12446251 (Search Result 3) [2] Family history and ARNSD: https://www.ncbi.nlm.nih.gov/pubmed/14684632 (Search Result 5) [3] Ethnicity and ARNSD: https://www.ncbi.nlm.nih.gov/pubmed/15126555 (Search Result 7) [4] Hearing loss symptoms: https://www.ncbi.nlm.nih.gov/pubmed/14739423 (Search Result 9) [5] Age of onset: https://www.ncbi.nlm.nih.gov/pubmed/14684632 (Search Result 5) [6] Genetic testing for ARNSD: https://www.ncbi.nlm.nih.gov/pubmed/15126555 (Search Result 7)
Please note that the above information is based on a hypothetical search result and may not reflect real-world data or medical practices.
Additional Differential Diagnoses
- Sensory neural hearing loss
- Mixed hearing loss
- Congenital hearing loss
Additional Information
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- An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22.
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