autosomal dominant nonsyndromic deafness 20

Autosomal dominant nonsyndromic deafness 20 (DFNA20) is a form of hearing loss that is inherited in an autosomal dominant pattern, meaning that one copy of the altered gene in each cell is sufficient to cause the condition. This type of hearing loss is characterized by postlingual onset with high frequency progressive hearing loss.

• Postlingual onset: The hearing loss typically begins after language development has occurred, usually in childhood or adolescence [6][7].
• High frequency progressive hearing loss: The hearing loss tends to affect higher frequencies first, and can progress over time [9][12].

DFNA20 is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [6][11]. This condition is relatively rare, but it's essential for individuals with a family history of this type of hearing loss to be aware of their risk and consider genetic testing.

It's worth noting that autosomal dominant nonsyndromic deafness 20 is one of the many forms of non-syndromic hearing loss, which accounts for approximately 75% of all hearing loss cases [10].

Autosomal dominant nonsyndromic deafness 20 (DFNA20) is a form of hearing loss that is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [3]. This condition is characterized by very early onset and bilateral hearing loss with varying degrees of severity, ranging from mild to profound [2].

The signs and symptoms of autosomal dominant nonsyndromic deafness 20 may include:

• Bilateral hearing loss: Hearing loss that affects both ears, often with a similar degree of severity in each ear [2].
• Early onset: Hearing loss can occur at any age, but it is often present from birth or develops during early childhood [3].
• Variable severity: The degree of hearing loss can vary significantly between individuals, ranging from mild to profound [2].
• Post-lingual onset: In most cases, hearing loss tends to be post-lingual in onset, meaning that it occurs after the development of language skills [9].

It's worth noting that autosomal dominant nonsyndromic deafness 20 is a rare condition, and the symptoms may not always be present or may vary in severity. If you suspect that you or someone else may have this condition, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [2] - Context result 2 [3] - Context result 3 [9] - Context result 9

Autosomal dominant nonsyndromic deafness 20, also known as ACTG1-related hearing loss, can be diagnosed through various diagnostic tests.

• Audiogram: A hearing test that measures the degree and type of hearing loss. It can help identify mild, moderate, severe, or profound hearing loss (7).
• Genetic testing: Specific genetic tests are available to detect mutations in the ACTG1 gene, which is responsible for autosomal dominant nonsyndromic deafness 20 (2, 3). These tests can be offered by clinical genetics laboratories, such as Fulgent Genetics (3).
• Clinical evaluation: A comprehensive clinical evaluation by a healthcare professional with expertise in genetics and hearing loss is essential for diagnosing NSHL. This includes an assessment of the patient's medical history, physical examination, and review of laboratory results (5).

It's worth noting that a multi-step approach based on next-generation sequencing technologies can be effective for diagnosing non-syndromic genetic HL, including autosomal dominant nonsyndromic deafness 20 (11). However, the diagnostic yield may vary depending on the specific genetic basis of the condition.

References: (2) Clinical resource with information about Autosomal dominant nonsyndromic hearing loss 20 and its clinical features, ACTG1, available genetic tests from US ... (3) Clinical Genetic Test offered by Fulgent Genetics for conditions (146): Autosomal dominant nonsyndromic hearing loss 20; Absent speech; Arts syndrome; . (5) Jan 1, 2024 — Diagnosis of NSHL requires an evaluation with appropriate core medical personnel with expertise in the genetics of hearing loss, dysmorphology, ... (7) For the autosomal dominant forms of deafness ... Hearing loss can be evaluated by audiogram and grouped as either mild (loss between 20 ... Diagnostic tests (290) ... (11) by M Aldè · 2023 · Cited by 31 — The most effective strategy for the diagnosis of non-syndromic genetic HL is to perform a multi-step approach based on next-generation sequencing technologies ...

Autosomal dominant non-syndromic sensorineural deafness 20/26 (DFNA20/26) is a genetic disorder that affects hearing. According to the available information, this condition is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [2].

Regarding drug treatment for autosomal dominant non-syndromic deafness 20/26 (DFNA20/26), there are limited options available. However, corticosteroids such as prednisone, prednisolone, and dexamethasone may be recommended as a first-line treatment in clinical practice [3].

It's worth noting that the effectiveness of these treatments can vary depending on the individual case, and more research is needed to fully understand their impact. Additionally, patients with mild and moderate hearing loss may only use hearing aids, while those with severe or profound hearing loss may require other interventions [10].

In terms of specific treatment options for DFNA20/26, there are no established treatments that can reverse or prevent the condition. However, early diagnosis and counseling can be beneficial in managing the condition and planning for future hearing needs.

Here are some key points to consider:

• Corticosteroids may be used as a first-line treatment in clinical practice [3].
• The effectiveness of these treatments can vary depending on the individual case.
• Patients with mild and moderate hearing loss may use hearing aids, while those with severe or profound hearing loss may require other interventions [10].
• Early diagnosis and counseling can be beneficial in managing the condition and planning for future hearing needs.

References:

[2] Autosomal dominant non-syndromic sensorineural deafness 20/26 (DFNA20/26) is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25. [3] Corticosteroids such as prednisone, prednisolone, and dexamethasone may be recommended as a first-line treatment in clinical practice. [10] Patients with mild and moderate hearing loss may only use hearing aids, while those with severe or profound hearing loss may require other interventions.

Autosomal dominant nonsyndromic deafness 20 (DFNA20) is a genetic disorder that affects hearing. The differential diagnosis for DFNA20 involves identifying other conditions that may present with similar symptoms.

Causes and Characteristics

• Genetic Mutation: DFNA20 is caused by heterozygous mutations in the ACTG1 gene on chromosome 17q25 [3].
• Hearing Loss: The condition is characterized by progressive low-frequency hearing loss, which can lead to profound deafness by the fourth decade of life [2].

Differential Diagnosis

When considering a differential diagnosis for DFNA20, other conditions that may present with similar symptoms should be ruled out. These include:

• Other forms of autosomal dominant nonsyndromic deafness: Other genes, such as DIAPH1 on chromosome 5q31, can also cause autosomal dominant nonsyndromic hearing loss [2].
• Autosomal recessive non-syndromic hearing loss: This condition is more common and may present with similar symptoms to DFNA20 [7].

Key Points

• Genetic Testing: Genetic testing for the ACTG1 gene can confirm a diagnosis of DFNA20.
• Hearing Loss Progression: The progression of hearing loss in DFNA20 can vary, but it often leads to profound deafness by the fourth decade of life.

References:

[2] - [3] - [7]

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies.