autosomal recessive nonsyndromic deafness 26

Autosomal Recessive Nonsyndromic Deafness 26 (DFNB26) is a form of non-syndromic sensorineural deafness characterized by prelingual severe to profound hearing loss. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.

Key Features:

• Prelingual severe to profound hearing loss
• Autosomal recessive inheritance pattern
• No other symptoms or syndromes associated with the condition

Causes and Genetics: DFNB26 is caused by mutations in the SLC26A4 gene, which encodes a protein involved in the function of the inner ear. The condition is usually inherited from both parents, who are carriers of the mutated gene but do not express the condition themselves.

Prevalence and Impact: The exact prevalence of DFNB26 is unknown, but it is estimated to account for about 12% of autosomal recessive deafness cases. The condition can have a significant impact on an individual's quality of life, particularly if left untreated or undiagnosed.

References:

• [4] Yousaf et al., 2018 - Characterized DFNB26 as a form of non-syndromic sensorineural deafness.
• [5] Described DFNB26 as a condition characterized by prelingual severe to profound hearing loss and autosomal recessive inheritance pattern.
• [8] Listed DFNB26 as an autosomal recessive nonsyndromic deafness with material basis in variation in the chromosome region 4q31.

Autosomal recessive nonsyndromic deafness, also known as autosomal recessive hearing loss, is a type of hearing impairment 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.

Signs and Symptoms:

• Prelingual deafness: Autosomal recessive nonsyndromic deafness often manifests before speech development, meaning that affected individuals are born with or develop hearing loss at a very young age [6].
• Bilateral hearing loss: The hearing loss is typically bilateral, affecting both ears equally [5].
• Mild to severe hearing loss: The degree of hearing loss can range from mild to severe, but it is often moderate in severity [5].
• Stable hearing loss: In some cases, the hearing loss may be stable and not progressive over time [9].

It's worth noting that autosomal recessive nonsyndromic deafness is a relatively rare condition, and its symptoms can vary widely among affected individuals.

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic disorder that affects hearing, and diagnostic testing plays a crucial role in identifying the condition. Here are some key points related to diagnostic tests for ARNSD:

• Molecular Testing: Molecular testing for connexin 26 and 30 gene mutations should be considered in individuals who have congenital or early-onset hearing loss but no other symptoms [5]. This test can establish a diagnosis and obviate the need for further evaluation.
• Connexin 26 Gene Mutation Detection: The GJB2 gene, which encodes connexin 26, is responsible for approximately 50% of autosomal recessive nonsyndromic hearing loss cases [8]. Detecting mutations in this gene can confirm a diagnosis of ARNSD.
• Genetic Testing: Genetic testing for Cx26-related deafness can establish a diagnosis and avoid the need for more expensive evaluations in individuals with prelingual severe-to-profound nonsyndromic hearing loss [12].
• Clinical Examination and Laboratory Tests: Before molecular diagnosis, clinical examination and laboratory tests should be performed to rule out extrinsic causes or syndromes associated with deafness [15].

In terms of specific diagnostic codes, the ICD-9 code for incision of salivary gland or duct is 26.0, while the code for repair of salivary gland or duct is 26.4.

It's essential to note that a diagnosis of ARNSD requires an evaluation with appropriate core medical personnel with expertise in genetics and hearing loss [4].

Autosomal recessive nonsyndromic deafness refers to a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Current Treatment Options

While there are no specific drug treatments available for autosomal recessive nonsyndromic deafness, researchers have been exploring various therapeutic approaches to address this condition. According to recent studies [1], gene therapy is a promising approach for hereditary deafness. For example, a study published in 2024 demonstrated the efficacy of AAV1-hOTOF gene therapy with dual promoters in treating autosomal recessive hearing loss [2].

Alternative Therapies

In addition to gene therapy, other alternative therapies may be considered on a case-by-case basis. These include cochlear implants or hearing aids, which can help improve communication and quality of life for individuals with severe hearing loss [3]. However, it's essential to consult with a healthcare professional for personalized advice and treatment.

Prevalence and Inheritance

It's worth noting that autosomal recessive nonsyndromic deafness is relatively common, affecting approximately 60-80% of non-syndromic hearing loss cases [4]. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene to express the condition.

References

[1] Brotto, D. (2024). Gene therapy based on AAVs for hereditary deafness: A new approach? [2] Wang, H., et al. (2024). AAV1-hOTOF gene therapy with dual promoters for autosomal recessive hearing loss. [3] Jiang, L. (2023). Current clinical treatments for hereditary hearing loss. [4] Aug 31, 2022 — Prevalence and inheritance of non-syndromic hearing loss.

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Differential Diagnosis of Autosomal Recessive Nonsyndromic Deafness

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that a person must inherit