autosomal recessive nonsyndromic deafness 3

Autosomal Recessive Nonsyndromic Deafness 3 (DFNB3) is a congenital, profound, neurosensory deafness [5][7]. It is characterized by prelingual onset with severe to profound, stable hearing loss [6]. There are no apparent vestibular abnormalities or dysmorphic features associated with this condition [2][3][5].

This form of non-syndromic sensorineural hearing loss results from a mutation in the gene responsible for DFNB3 [7]. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition [1][4][8].

Prelingual deafness, where manifestation occurs before speech development, is a common feature of autosomal recessive nonsyndromic deafness, including DFNB3 [9]. The MYO15A gene has been identified as the cause of any autosomal recessive nonsyndromic deafness in which the disease is caused by a mutation in this gene [10].

Overall, Autosomal Recessive Nonsyndromic Deafness 3 (DFNB3) is a severe and profound form of congenital hearing loss with no associated physical abnormalities.

Autosomal recessive nonsyndromic deafness 3 (DFNB3) is a congenital, profound, neurosensory deafness that affects individuals from birth. The primary sign and symptom of DFNB3 is severe hearing loss, which can range from moderate to profound.

• Severe Hearing Loss: Individuals with DFNB3 experience significant difficulty or inability to hear even very loud noises [8].
• No Apparent Vestibular Abnormalities: Unlike some other forms of deafness, individuals with DFNB3 do not exhibit any apparent vestibular (balance-related) abnormalities or dysmorphic features [8].

It's essential to note that the symptoms of autosomal recessive nonsyndromic deafness 3 are primarily related to hearing loss and do not involve other signs or symptoms. If you have concerns about a specific condition, it is always best to consult with a qualified healthcare professional for an accurate diagnosis and guidance.

References: [8] - Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features ( ... )

Autosomal Recessive Nonsyndromic Deafness 3 (ARND3) is a form of non-syndromic sensorineural hearing loss. The diagnostic tests for ARND3 typically involve genetic testing to identify the underlying cause of the condition.

Genetic Testing

Genetic testing can provide an accurate determination of the etiology of the patient's hearing loss, which is essential for diagnosis and management of ARND3 (6). The genetic test results may also help in identifying the specific gene mutation responsible for the condition (4).

Targeted Familial Testing

Targeted familial testing has been shown to have a diagnostic yield of 60% in cases of autosomal recessive nonsyndromic deafness (9). This type of testing involves analyzing the genes that are commonly associated with ARND3.

Gene Panel Testing

Gene panel testing, which involves analyzing multiple genes simultaneously, has also been used to diagnose ARND3. The diagnostic yield for gene panel testing was 50% in a study involving five patients (9).

Other Diagnostic Tests

While genetic testing is the primary diagnostic tool for ARND3, other tests such as audiological assessments and imaging studies may be performed to rule out other conditions that may cause hearing loss.

In summary, the diagnostic tests for autosomal recessive nonsyndromic deafness 3 typically involve genetic testing, including targeted familial testing and gene panel testing. These tests can provide an accurate diagnosis and help in identifying the underlying cause of the condition.

References:

• [6] Benefits of Genetic Testing.
• [4] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 25 and its clinical features, GRXCR1, available genetic tests from US ...
• [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 recessive nonsyndromic deafness 3 (DFNB3) is a genetic disorder that affects hearing, and while there are no specific "drug treatments" for this condition, research has shown promising results in using gene therapy to treat it.

According to recent studies [13], autosomal recessive deafness 9, which includes DFNB3, is an ideal candidate disease for gene therapy. Gene therapy involves using a virus to deliver healthy copies of the faulty gene to the inner ear, where hearing loss occurs.

In clinical trials of gene therapy for treating autosomal recessive deafness 9 (DFNB9), patients' hearing was recovered without evident adverse reactions [14-16]. However, it's essential to note that numerous challenges persist in using gene therapy for treating deafness due to the intricate structure of the cochlea.

Currently, there are no FDA-approved drugs specifically designed to treat autosomal recessive nonsyndromic deafness 3. However, researchers continue to explore innovative treatments, including gene therapy and other emerging technologies, to improve hearing outcomes for individuals affected by this condition.

It's also worth noting that while there may not be a specific "drug treatment" for DFNB3, cochlear implants can significantly improve hearing in individuals with severe-to-profound non-progressive sensorineural hearing loss [6].

Autosomal Recessive Nonsyndromic Deafness 3 (DFNB3) is a congenital, profound, neurosensory deafness that can be challenging to diagnose due to its non-syndromic nature. However, there are some key factors to consider for differential diagnosis:

• Genetic testing: Genetic testing can help identify the underlying cause of DFNB3. In most cases, mutations in the STRC gene have been identified as the primary cause