autosomal dominant nonsyndromic deafness 24

Autosomal dominant nonsyndromic deafness 24, also known as DFNA24, is

Autosomal dominant nonsyndromic deafness, also known as DFNA, is a type of hearing loss that is inherited in an autosomal dominant pattern. The characteristics of this condition are heterogeneous, but in most cases, the hearing loss tends to be bilateral and post-lingual in onset (childhood or later).

Common signs and symptoms:

• Bilateral hearing loss, meaning both ears are affected
• Post-lingual hearing loss, meaning the hearing loss occurs after language development has taken place
• Hearing loss can range from mild to severe, but is often progressive, meaning it worsens over time [6]
• The hearing loss typically affects all frequencies, but may be more pronounced in certain frequency ranges [10]

Other characteristics:

• The condition tends to affect both males and females equally
• The age of onset can vary, but is often reported to occur in childhood or later
• In some cases, the hearing loss may be associated with other symptoms, such as tinnitus (ringing in the ears) or vertigo [7]

It's worth noting that the signs and symptoms of autosomal dominant nonsyndromic deafness can vary widely between individuals, even within the same family. A detailed medical evaluation by an audiologist or geneticist is necessary to confirm a diagnosis.

References: [6] M Aldè (2023) - Autosomal dominant non-syndromic HL: loci, genes and clinical manifestations. [7] Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), ... [10] LX Zhong (2013) - Autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while ...

Autosomal dominant nonsyndromic deafness 24 can be diagnosed through various diagnostic tests, including molecular genetic testing.

• Molecular genetic testing is a reliable method for diagnosing autosomal dominant nonsyndromic deafness 24. This test involves analyzing the DNA sequence of specific genes to identify any mutations that may be causing the condition [7].
• The TBC1D24 mutation is a known cause of autosomal-dominant nonsyndromic hearing loss, and molecular genetic testing can detect this mutation [8].

It's worth noting that diagnosis/testing for hereditary hearing loss, including autosomal dominant nonsyndromic deafness 24, often involves next-generation sequencing (NGS) technologies. This allows for the simultaneous analysis of multiple genes and can provide a comprehensive understanding of the underlying genetic cause of the condition [5].

In some cases, additional tests may be recommended to confirm the diagnosis or rule out other potential causes of hearing loss. However, molecular genetic testing remains a crucial tool in diagnosing autosomal dominant nonsyndromic deafness 24.

References: [7] Smith RJH, Cited by 240 [8] Jan 1, 2024 [5] Oct 24, 2024

Based on the provided context, it appears that there are some studies and research papers discussing drug treatment for autosomal dominant nonsyndromic deafness.

According to search result [8], a study by M. Aldè in 2023 mentions that "dominant nonsyndromic hereditary hearing impairment" maps to 12q21-24, which suggests that there may be specific genetic factors involved in this condition. However, it does not provide information on drug treatment.

Another search result [7] by Y. Tao in 2023 discusses the use of liposome-RNP delivery as a strategy to recover hearing with dominant mutations in OHC genes and with certain types of hearing loss. While this study is related to gene therapy and hearing recovery, it does not specifically mention drug treatment for autosomal dominant nonsyndromic deafness.

Unfortunately, I couldn't find any specific information on drug treatment for autosomal dominant nonsyndromic deafness in the provided context. However, based on search result [3], it seems that corticosteroids such as dexamethasone and methylprednisolone have been used clinically to manage refractory Ménière's disease, which is a different condition but may share some similarities with autosomal dominant nonsyndromic deafness.

It's worth noting that the provided context does not provide conclusive evidence on drug treatment for autosomal dominant nonsyndromic deafness. If you're looking for more information on this topic, I recommend consulting a medical professional or searching for more recent studies and research papers.

Possible Treatment Options:

• Corticosteroids such as dexamethasone and methylprednisolone (search result [3])
• Liposome-RNP delivery (search result [7])

Limitations: The provided context does not provide conclusive evidence on drug treatment for autosomal dominant nonsyndromic deafness. More research is needed to determine effective treatment options.

References:

[3] by SS Liu · 2022 · Cited by 38 [7] by Y Tao · 2023 · Cited by 19

Autosomal dominant nonsyndromic deafness (ADNSD) 24, also known as DFNA24, is a rare form of inherited hearing loss that affects the inner ear. The differential diagnosis for ADNSD 24 involves identifying other conditions that may present with similar symptoms.

Possible Causes:

• GJB2 gene mutations: Mutations in the GJB2 gene have been associated with ADNSD 24, as well as other forms of hearing loss (1). This gene provides instructions for making a protein called connexin 26, which is involved in the formation and function of the inner ear's sensory cells.
• Other genetic mutations: Other genes, such as GJB3, GJB6, and SLC17A8, have also been implicated in ADNSD 24 (2).
• Environmental factors: Exposure to certain environmental toxins or infections during pregnancy may contribute to the development of ADNSD 24 (3).

Symptoms:

• Gradual hearing loss: The onset of hearing loss is typically gradual and can occur at any age, but often begins in childhood or adolescence.
• Sensorineural hearing loss: The type of hearing loss associated with ADNSD 24 is sensorineural, meaning it affects the inner ear's sensory cells.

Diagnostic Tests:

• Genetic testing: Genetic testing for mutations in the GJB2 gene and other genes associated with ADNSD 24 can confirm the diagnosis.
• Audiological evaluation: A comprehensive audiological evaluation, including pure-tone audiometry and speech audiometry, is essential