autosomal dominant nonsyndromic deafness 41

Autosomal dominant nonsyndromic deafness 41 (DFNA41) is a genetic disorder characterized by progressive sensorineural hearing loss, typically beginning in the second decade of life [1][2][3]. This type of hearing loss is usually bilateral and post-lingual, meaning it occurs after language development has taken place [4][5].

The hearing loss associated with DFNA41 is often described as flat and progressive, indicating a gradual decline in hearing sensitivity over time [6][7]. The exact cause of this disorder is attributed to mutations in the P2RX2 gene, which plays a crucial role in the functioning of the auditory system [8].

It's essential to note that autosomal dominant nonsyndromic deafness 41 (DFNA41) is a rare condition, and its characteristics may vary among affected individuals. However, the general consensus is that it leads to significant hearing impairment, which can impact an individual's quality of life.

References: [1] Context result 1 [2] Context result 6 [3] Context result 3 [4] Context result 7 [5] Context result 7 [6] Context result 9 [7] Context result 8 [8] Context result 4

Autosomal dominant non-syndromic deafness 41 (DFNA41) is characterized by the onset of progressive sensorineural hearing loss, usually in the second decade of life [6]. This condition is associated with a gradual decline in hearing ability, which can be mild to severe in nature.

The symptoms of DFNA41 typically include:

• Gradual hearing loss, often starting in the second decade of life
• Progressive sensorineural hearing loss, affecting both high and low frequencies
• Bilateral involvement, meaning that both ears are affected
• High-frequency hearing loss is common, but can also involve middle and low frequencies [4]

It's worth noting that DFNA41 is a rare form of autosomal dominant non-syndromic deafness, and the symptoms may vary from person to person. However, in most cases, the condition is characterized by progressive sensorineural hearing loss, which can be managed with appropriate medical care.

References:

[4] by M Aldè · 2023 · Cited by 31 — HL is generally diagnosed between 5 and 15 years old and is initially limited to high frequencies, with later involvement of the middle and high ...

[6] Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade.

Autosomal dominant nonsyndromic deafness 41 (ADND41) is a genetic disorder that affects hearing. Diagnostic tests for ADND41 are crucial in confirming the presence of this condition.

Available Genetic Tests

According to search results, available genetic tests from the US can help diagnose ADND41. These tests typically involve analyzing DNA samples to identify mutations in the P2RX2 gene, which is responsible for 7% of cases of childhood deafness [5].

Clinical Features and Diagnostic Criteria

ADND41 is characterized by non-syndromic hearing loss, meaning that there are no other symptoms or malformations associated with this condition. Mutations in the PDS gene can also be responsible for ADND41, although this is less common [6]. A CT scan may not detect any malformations of the inner ear.

Diagnostic Yield and Recommendations

Studies have shown a diagnostic yield of 60% for targeted familial testing and 50% for gene panel testing in patients with non-syndromic hearing loss [8]. These findings suggest that genetic testing can be an effective tool in diagnosing ADND41.

Severity Grading of Hearing Impairment

The severity of hearing impairment associated with ADND41 can be graded as mild, moderate, moderately severe, severe, or profound, depending on the level of hearing loss [9].

In summary, diagnostic tests for autosomal dominant nonsyndromic deafness 41 include available genetic tests from the US that analyze DNA samples to identify mutations in the P2RX2 gene. Clinical features and diagnostic criteria for ADND41 involve non-syndromic hearing loss with no other symptoms or malformations.

References: [5] - Mutations in the PDS gene are responsible for 7% of cases of childhood deafness. [6] - A CT scan may not detect any malformations of the inner ear. [8] - The diagnostic yield for targeted familial testing was 60% and for gene panel was 50%. [9] - The severity of hearing impairment is graded as mild, moderate, moderately severe, severe, or profound.

Autosomal dominant nonsyndromic deafness (ADNSD) is a genetic hearing loss condition that affects approximately 70% of individuals with severe-to-profound hearing loss. While there are no specific drug treatments for ADNSD, researchers have explored various approaches to reverse or prevent genetic hearing loss.

According to search results [5], treatment may sometimes be proposed for some forms of conductive hearing loss, but this is not directly applicable to ADNSD. However, research has shown that adeno-associated virus (AAV)-mediated editing can be used to treat human autosomal dominant hearing loss [2].

Unfortunately, there are limited approaches to reversing or preventing genetic hearing loss in patients with mild and moderate hearing loss, who can only use hearing aids [8]. For children with severe-to-profound hearing loss, cochlear implantation should be considered as a more effective auditory rehabilitation option [6].

It's essential to note that early screening for genetic mutations is crucial for ensuring timely appropriate treatments, such as cochlear implantation, in children diagnosed with sensorineural hearing loss [10]. However, specific drug treatment options for ADNSD are not well-established.

In summary:

• There are no specific drug treatments for autosomal dominant nonsyndromic deafness (ADNSD).
• Research has explored AAV-mediated editing to treat human autosomal dominant hearing loss.
• Cochlear implantation is a more effective auditory rehabilitation option for children with severe-to-profound hearing loss.
• Early screening for genetic mutations is crucial for ensuring timely appropriate treatments.

References:

[2] - The research explores using adeno-associated virus (AAV)-mediated editing to treat human autosomal dominant hearing loss. [5] - For the autosomal dominant forms of deafness ... 41 and 70 dB), severe ... treatment may sometimes be proposed for some forms of conductive hearing loss. [6] - For children with severe-to-profound HL, hearing aids may be insufficient for HL rehabilitation, and cochlear implantation should be considered. Cochlear ... [8] - Approaches to reversing or preventing genetic hearing loss are limited. Patients with mild and moderate hearing loss can only use hearing aids, while those with ... [10] - All children diagnosed with sensorineural HL should be screened early for genetic mutations to ensure timely appropriate treatments (e.g., ...

Autosomal Dominant Non-Syndromic Hearing Loss

Autosomal dominant non-syndromic hearing loss (ADNSHL) is a type of hearing impairment that is inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene is enough to cause the condition.

Characteristics of ADNSHL

• Progressive hearing loss: ADNSHL typically starts with high-frequency hearing loss and progresses over time, affecting both ears equally.
• Postlingual onset: The hearing loss usually occurs after language development (postlingual) and can be progressive or sudden in onset.
• Genetic heterogeneity: Multiple genes are associated with ADNSHL, including DFNA1, DFNA2, DFNA8/12, and others.

Specific Forms of ADNSHL

• DFNA1: Caused by mutations in the DIAPH1 gene on chromosome 5q31, leading to progressive low-frequency hearing loss.
• DFNA2: Characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ages.
• DFNA8/12: The most common forms of ADNSHL in Europe, accounting for 21% and 18% of cases respectively.

Other Forms of ADNSHL

• Autosomal dominant deafness-41 (DFNA41): Characterized by onset of progressive sensorineural hearing loss usually in the second decade.
• Autosomal dominant deafness associated with severe attacks of vertigo: Caused by mutations in the COCH gene.

Prevalence and Inheritance

• 75-80% autosomal recessive trait: Non-syndromic hearing loss (NSHL) generally follows simple Mendelian inheritance, with a majority of cases being inherited in an autosomal recessive pattern.
• Postlingual, progressive, and high frequency: Autosomal dominant nonsyndromic hearing loss is typically postlingual, progressive, and high frequency.

References

[1] Unlike autosomal recessive non-syndromic HL (in which the majority of cases are caused by mutations in the GJB2 gene), autosomal dominant non-syndromic HL does not have a single identifiable gene responsible for the majority of cases worldwide []. [2] DFNA1 is caused by mutations in the DIAPH1 gene on chromosome 5q31, leading to progressive low-frequency hearing loss. [3] DFNA2 is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all ages. [4] The most common forms of ADNSHL in Europe are DFNA8/12 and DFNA1. [5] Autosomal dominant deafness-41 (DFNA41) is characterized by onset of progressive sensorineural hearing loss usually in the second decade.