autosomal recessive nonsyndromic deafness 23

Autosomal Recessive Nonsyndromic Deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern.

• Inheritance Pattern: This condition is caused by mutations in both copies of the gene, one inherited from each parent. The parents are typically carriers and have normal hearing themselves, but they can pass on the mutated gene to their offspring [6].
• Prevalence: Autosomal recessive nonsyndromic deafness accounts for a significant proportion of cases, with estimates ranging from 75% to 80% of all non-syndromic hearing loss cases [7][8].
• Genetic Cause: The most common genetic cause of ARNSHL is mutations in the GJB2 gene on chromosome 13q12. This condition is known as Deafness, autosomal recessive 1a (DFNA1A) [9].

It's worth noting that while autosomal recessive nonsyndromic deafness can be inherited, it's not the only cause of hearing loss. Other factors such as environmental and acquired causes can also contribute to hearing impairment.

References: [6] - The parents of most affected individuals are carriers and are therefore likely to have a 25% (one-in-four) chance of passing on the mutated gene to their offspring. [7] - Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance and is predominantly transmitted as an autosomal recessive trait (75–80%). [8] - Nonsyndromic deafness can have different patterns of inheritance. Between 75% and 80% of cases are inherited in an autosomal recessive pattern. [9] - Deafness, autosomal recessive 1a is a form of non-syndromic sensorineural hearing loss caused by mutations in the GJB2 gene on chromosome 13q12.

Autosomal recessive nonsyndromic deafness 23 (DFNB23) is a genetic disorder that affects hearing. The signs and symptoms associated with this condition are:

• Prelingual onset: Hearing loss typically begins before the age of 2, which means that affected individuals may not develop language skills or may experience significant delays in speech development [8].
• Bilateral hearing loss: Both ears are usually affected, resulting in a range of hearing impairments from mild to profound [4].
• Stable hearing loss: The degree of hearing loss tends to remain stable over time, rather than worsening with age [9].

It's essential to note that the signs and symptoms of autosomal recessive nonsyndromic deafness 23 can vary in severity and impact on daily life. If you suspect a genetic disorder or have concerns about hearing loss, consult a healthcare professional for proper evaluation and guidance.

References: [4] - Context result 4 [8] - Context result 8 [9] - Context result 9

Based on the provided context, here are some diagnostic tests for autosomal recessive nonsyndromic deafness:

• Genetic testing: This is a crucial step in diagnosing autosomal recessive nonsyndromic deafness. Genetic testing can identify mutations in genes associated with this condition, such as GJB2 and GJB6 [4][5].
• Molecular Genetics Tests: These tests are available for identifying genetic mutations that cause autosomal recessive nonsyndromic deafness [1][3].
• Clinical tests: There are 32 clinical tests available in the database for this condition, which can help identify the underlying cause of hearing loss [2].

It's worth noting that genetic testing has not been proposed as a primary screen for hearing loss, but it is an important tool for diagnosing and managing autosomal recessive nonsyndromic deafness [6]. Additionally, different variants in the same gene can cause different forms of hearing loss, so it's essential to consider this when interpreting test results [7].

References: [1] Context result 3 [2] Context result 3 [3] Context result 4 [4] Context result 10 [5] Context result 10 [6] Context result 6 [7] Context result 7

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of all cases of non-syndromic hearing loss. As for drug treatment, there are currently no specific medications that can cure or significantly improve hearing in individuals with autosomal recessive nonsyndromic deafness.

However, researchers have been exploring various gene therapy approaches to treat this condition. For example, a study published in 2024 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating unilateral hearing loss caused by autosomal recessive nonsyndromic deafness [2]. This treatment involves using a viral vector (AAV1) to deliver a healthy copy of the OTOF gene to the inner ear, which helps restore hearing.

Another study published in 2023 highlighted the potential of cochlear implants and hearing aids as current clinical treatments for autosomal recessive nonsyndromic deafness [6]. These devices can significantly improve communication and quality of life for individuals with this condition.

It's essential to note that treatment may sometimes be proposed for some forms of conductive hearing loss, which is a different type of hearing loss. However, for autosomal recessive nonsyndromic deafness, the primary focus has been on gene therapy and assistive listening devices [5].

Consulting with a healthcare professional is crucial to determine the best course of treatment for an individual with autosomal recessive nonsyndromic deafness.

References: [2] Wang H. Gene therapy for hereditary deafness: A promising approach. 2024. [6] Jiang L. Current clinical treatments for hearing loss due to genetic mutations. 2023. [5] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other forms of hearing loss. However, there are some key factors that can help in making a differential diagnosis.

Key characteristics:

• Bilateral and congenital or prelingual hearing loss: ARNSHL typically affects both ears from birth or early childhood, with most cases presenting before the age of 5 [7].
• Severe to profound sensorineural hearing loss: The condition is often characterized by severe to profound hearing impairment, which can be detected through audiometric testing [9].
• Family history: A family history of similar hearing loss in first-degree relatives (parents or siblings) may indicate an autosomal recessive inheritance pattern [8].

Differential diagnosis:

• Autosomal dominant nonsyndromic deafness: This form of hearing loss can also present with bilateral and congenital hearing loss, but it often has a later onset and may be associated with other symptoms such as cataracts or facial abnormalities.
• Sensory neural hearing loss due to genetic mutations: Other genetic mutations, such as those affecting the TECTA gene (DFNA8/12), can also cause autosomal dominant nonsyndromic sensorineural deafness [10].
• Other forms of hearing loss: Conditions like otosclerosis, Meniere's disease, or acoustic neuroma may present with similar symptoms to ARNSHL and require further investigation.

Investigations:

• Audiometric testing: Comprehensive audiometry is essential for diagnosing ARNSHL, including pure-tone audiometry, speech audiometry, and tympanometry.
• Genetic testing: Genetic analysis can confirm the presence of mutations in genes associated with ARNSHL, such as OTOF or TECTA [2][10].
• Imaging studies: Imaging techniques like CT or MRI scans may be necessary to rule out other conditions that could cause similar symptoms.

It's essential to note that a definitive diagnosis of ARNSHL can only be made through genetic testing and confirmation of the specific mutation responsible for the condition.