autosomal recessive nonsyndromic deafness 63

Autosomal Recessive Nonsyndromic Deafness 63 (DFNB63) is a form of non-syndromic sensorineural hearing loss that affects both ears and is present at birth. It is caused by mutations in the LRTOMT gene, which plays a crucial role in the development and function of the inner ear.

Characteristics:

• Prelingual onset: The hearing loss occurs before language development, typically at birth or shortly after.
• Bilateral involvement: Both ears are affected, resulting in a significant impact on communication and social interactions.
• Nonprogressive: The hearing loss remains stable over time, without any significant progression or deterioration.
• Sensorineural deafness: The hearing loss is due to damage to the neural receptors of the inner ear, rather than a problem with the middle ear.

Prevalence:

• Autosomal recess

Autosomal recessive nonsyndromic deafness 63, also known as DFNB63, is a genetic disorder that affects hearing. The signs and symptoms of this condition can vary from person to person, but here are some common manifestations:

• Prelingual onset: This condition typically presents with hearing loss before speech development (prelingual deafness) [2].
• Stable hearing loss: The hearing impairment associated with autosomal recessive nonsyndromic deafness 63 is consistent in age of onset and tends to be stable over time [7].
• Congenital or prelingual severe to profound deafness: Autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies [10].

It's worth noting that psychiatric symptoms such as personality change and paranoia may appear in childhood and progress in some cases of autosomal recessive nonsyndromic hearing loss [3]. However, this is not a universal symptom associated with DFNB63.

References:

[1] Not applicable (this information was not provided in the context)

[2] Context #2

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[10] Context #10

Autosomal Recessive Nonsyndromic Deafness (ARNSD) 63, also known as DFNB63, is a genetic disorder that affects hearing. Diagnostic tests for ARNSD 63 are crucial in identifying the condition and providing appropriate management.

Available Tests

According to available clinical tests [1], there are several diagnostic approaches for ARNSD 63:

• Genetic testing: Molecular genetic testing can identify mutations in the responsible gene, which is often inherited in an autosomal recessive manner. This test can be performed on a blood sample or other tissue.
• Exome sequencing: Exome-based next-generation sequencing (NGS) with CNV analysis [3] can also be used to detect mutations in the responsible gene.
• Gene panel testing: A 138-gene panel that includes assessment of non-coding variants [4] may also be considered for diagnostic purposes.

Other Diagnostic Approaches

In addition to genetic testing, other diagnostic approaches may include:

• Audiological evaluation: A thorough audiological examination is essential in assessing the degree and type of hearing loss.
• Family history: A detailed family history can provide clues about the inheritance pattern of the condition.
• Physical examination: A physical examination may reveal associated physical features or signs that can aid in diagnosis.

References

[1] Clinical tests (21 available) for ARNSD 63 [3] Exome based NextGen sequencing with CNV analysis [4] A 138-gene panel that includes assessment of non-coding variants

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. As of my knowledge cutoff in 2024, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness.

However, researchers are exploring various gene therapy approaches to treat this condition. For example, a study published in 2023 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating hereditary hearing loss [5]. Another study from 2024 discussed the potential of gene therapy based on adeno-associated viruses (AAVs) for the treatment of hereditary deafness [7].

Currently, the primary treatments for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids. These devices can significantly improve communication and quality of life for individuals with this condition.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances [9].

References: [5] Jiang, L. (2023). Hereditary hearing loss: Current clinical treatments and future gene therapy approaches. [7] Brotto, D. (2024). Gene therapy for hereditary deafness: A new approach using adeno-associated viruses. [9] Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose,