autosomal dominant nonsyndromic deafness 73

Autosomal dominant nonsyndromic deafness 73, also known as DFNA73, is a rare genetic disorder that affects the hearing ability of individuals.

• Inheritance pattern: This condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. [9]
• Age of onset: The age of onset for this condition can vary from early childhood to the third decade. [2][3]
• Type of hearing loss: Autosomal dominant nonsyndromic deafness 73 is characterized by mild to severe bilateral hearing symptoms, affecting both ears. [2][3]
• Cochlear nerve involvement: This condition is related to an abnormal functionality of the cochlear nerve, which plays a crucial role in transmitting sound signals to the brain. [4]

It's essential to consult with a healthcare professional for medical advice and treatment regarding this condition.

Autosomal dominant nonsyndromic deafness (ADNSHL) is a genetic condition characterized by hearing loss that is inherited in an autosomal dominant pattern. The signs and symptoms of ADNSHL can vary, but here are some common ones:

• Prelingual hearing loss: Hearing loss that occurs before the age of 2-3 years [4].
• High-frequency hearing loss: Hearing loss that affects high frequencies (above 2000 Hz) [1].
• Bilateral involvement: Both ears are affected, and the hearing loss can be symmetrical or asymmetrical [5].
• Progressive hearing loss: The hearing loss can progress over time, but it is generally slow and may not reach a severe-to-profound range [2].

It's worth noting that some cases of ADNSHL can also present with other signs or symptoms, such as:

• Thrombocytopenia (low platelet count) in DFNA1 [6].
• Vertigo or vestibular problems in some cases [6].
• Low-frequency hearing loss in DFNA1 and DFNA6/14/38 [8].

The symptoms of ADNSHL can vary from person to person, and the severity of the hearing loss can also differ. If you suspect that you or a family member may have ADNSHL, it's essential to consult with a healthcare professional for proper evaluation and diagnosis.

References: [1] by M Aldè · 2023 · Cited by 31 [2] by M Aldè · 2023 · Cited by 31 [4] by MD Venkatesh · 2015 · Cited by 48 [5] by MD Venkatesh · 2015 · Cited by 48 [6] by M Aldè · 2023 · Cited by 31 [8] by M Bitner-Glindzicz · 2002 · Cited by 375

Autosomal dominant nonsyndromic deafness (ADNSHL) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. Diagnostic tests for ADNSHL are crucial for establishing a diagnosis and providing genetic counseling.

Diagnostic Tests:

• Genetic testing: Genetic testing can identify mutations in the genes responsible for ADNSHL. The most common gene associated with ADNSHL is GJB2, which accounts for approximately 50% of cases [9]. Other genes, such as SLC26A4 and MYO7A, are also implicated in ADNSHL [8].
• Family studies: Family studies can be helpful in identifying patterns of inheritance and confirming the diagnosis of ADNSHL. This involves analyzing the family history of hearing loss and other related conditions.
• Genetic panel testing: Genetic panel testing is a comprehensive test that evaluates multiple genes associated with ADNSHL, including GJB2, SLC26A4, MYO7A, and others [9].
• Targeted familial testing: Targeted familial testing involves analyzing specific genes in family members who are suspected to carry the mutated gene. This can be particularly useful for families with a history of ADNSHL.

Clinical Features:

ADNSHL typically presents as early-onset hearing loss, often before the age of 10 [6]. The hearing loss is usually bilateral and progressive, meaning that it worsens over time. In some cases, the hearing loss may be unilateral or fluctuating.

Diagnostic Yield:

Studies have shown a diagnostic yield of up to 60% for targeted familial testing and 50% for gene panel testing in families with ADNSHL [9].

References:

[6] Jan 1, 2024 — Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ...

[8] by RJH Smith · Cited by 240 — Diagnosis/testing. Genetic forms of hearing ... Family studies of autosomal dominant nonsyndromic hearing loss have shown that as in autosomal ...

[9] by S Alkhidir · 2024 — The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ...

Autosomal dominant nonsyndromic deafness (ADND) is a type of hearing loss that is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. While there is no specific "cure" for ADND, various treatment options are available to manage and improve hearing.

Hearing Aids

The most common treatment for ADND is the use of hearing aids. These devices can significantly improve speech recognition and communication in individuals with ADND (1). Hearing aids work by amplifying sound waves to help compensate for the loss of hearing.

Cochlear Implants

For some individuals with severe or profound hearing loss, cochlear implants may be a viable option. These implants are surgically implanted devices that directly stimulate the auditory nerve, bypassing damaged hair cells in the inner ear (2).

Gene Therapy

Research is ongoing to develop gene therapies for ADND. Gene therapy aims to directly address the primary cause of hearing loss by correcting or replacing the mutated gene responsible for the condition (3). While promising, gene therapy is still in its early stages and not yet widely available.

Other Treatments

In addition to these treatments, other options may be considered on a case-by-case basis. These can include speech therapy, auditory rehabilitation programs, and assistive listening devices such as FM systems or infrared systems (4).

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

References:

[1] by M Aldè · 2023 · Cited by 30 — A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or ... (Search Result 6)

[2] Aug 31, 2022 — With gene therapy, the goal is to directly address the primary cause of hearing loss (DNA mutations). Multiple biotech companies are investing a ... (Search Result 7)

[3] by M Aldè · 2023 · Cited by 30 — A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or ... (Search Result 6)

[4] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any autosomal dominant nonsyndromic deafness in which ... (Search Result 10)

Differential Diagnosis of Autosomal Dominant Nonsyndromic Deafness

Autosomal dominant nonsyndromic deafness is a form of hearing loss that can be inherited in an autosomal dominant pattern. The differential diagnosis for this condition involves identifying the underlying genetic cause, which can be complex and require a comprehensive approach.

Possible Causes:

• Mutations in the MYO6 gene (DFNA22) [1]
• Mutations in the TECTA gene (DFNA8/12) [1]
• Mutations in other genes, such as COCH, which can result in progressive postlingual deafness associated with severe attacks of vertigo [4]

Key Features:

• Postlingual, progressive, and high-frequency hearing loss [11]
• Onset typically occurs in the first to fourth decade of life [8]
• Affected individuals have a 50% chance of passing the condition on to each of their children [7]

Diagnostic Considerations:

• A hearing loss multigene panel that includes all genes implicated in nonsyndromic hearing loss can be used to identify the genetic cause of the condition [13]
• The differential diagnosis should also consider other conditions that mimic nonsyndromic hearing loss, such as GJB2-related deafness [13]

References:

[1] Context 1 [4] Context 4 [7] Context 7 [8] Context 8 [11] Context 11 [13] Context 13