autosomal dominant nonsyndromic deafness 78

Autosomal dominant nonsyndromic deafness 78 (DFNA78) is a condition characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies [6]. This means that individuals with DFNA78 are born with severe to profound hearing loss in both ears, and it affects their ability to hear sounds across all frequency ranges.

According to the available information, some patients with DFNA78 may experience mild motor delay early in life due to vestibular dysfunction, although their motor skills typically catch up with age [12]. However, affected individuals do not have systemic or other neurologic symptoms associated with this condition.

It's worth noting that autosomal dominant nonsyndromic deafness 78 is a rare form of hearing loss, and more research is needed to fully understand its characteristics and implications.

Autosomal dominant nonsyndromic deafness 78 (DFNA78) is characterized by profound congenital bilateral sensorineural hearing loss affecting all frequencies [9]. Some patients with this condition may experience severe to profound hearing loss from birth, which can impact their ability to hear and communicate effectively.

The symptoms of DFNA78 typically include:

• Profound congenital bilateral sensorineural hearing loss affecting all frequencies
• Severe to profound hearing loss from birth
• Bilateral involvement, meaning both ears are affected
• Sensorineural hearing loss, which affects the inner ear's ability to convert sound vibrations into electrical signals

It is essential to note that DFNA78 is a rare condition, and not much information is available about its specific signs and symptoms. However, in general, autosomal dominant nonsyndromic deafness can manifest differently in different individuals, and the severity of hearing loss can vary from person to person [10].

References: [9] - Context result 9 [10] - Context result 10

Autosomal dominant nonsyndromic hearing loss (ADNSHL) can be diagnosed through various genetic tests, which are crucial for identifying the underlying cause of the condition and providing a precise diagnosis. Here are some diagnostic tests used to identify ADNSHL:

• Genetic testing: This is the primary method for diagnosing ADNSHL. Genetic testing involves analyzing DNA samples from individuals with suspected ADNSHL to identify mutations in specific genes associated with this condition [8][10].
• Exome sequencing: Exome sequencing is a type of genetic testing that focuses on the protein-coding regions of the genome (exons). It can be used to identify mutations in multiple genes simultaneously, including those responsible for ADNSHL [3].
• Sequence analysis: This test involves analyzing the entire coding region of specific genes associated with ADNSHL. Sequence analysis is often performed using bi-directional Sanger sequencing or next-generation sequencing technologies [10].
• Genetic panel testing: A genetic panel test can be used to analyze multiple genes simultaneously, including those responsible for ADNSHL. This type of testing can help identify the underlying cause of hearing loss in individuals with suspected ADNSHL [4].

It's essential to note that a diagnosis of ADNSHL requires an evaluation by a qualified healthcare professional with expertise in genetics and hearing loss. A comprehensive diagnostic approach may involve a combination of these genetic tests, as well as other evaluations, such as audiological assessments and imaging studies.

References:

[3] Smith RJH (2018). Genetics: advances in genetic testing for deafness. Curr Opin Pediatr, 24(6), 679-86.

[4] Clinical Molecular Genetics test for Autosomal dominant nonsyndromic hearing loss offered by Genetiks Genetic Diagnosis Center.

[8] Smith RJH (2023). Genes in the Non-Syndromic Hearing Loss Panel and their clinical significance. CCDC50, Deafness, AD; CD164, Deafness, AD.

[10] Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Genetiks Genetic Diagnosis Center.

Based on the provided context, it appears that there are currently no specific drug treatments available for autosomal dominant nonsyndromic deafness.

However, researchers are exploring gene therapy as a potential treatment option. Gene replacement, in particular, has shown promise in treating genetic diseases, including those caused by autosomal dominant inheritance (see [14]).

Additionally, adeno-associated virus (AAV)-mediated editing is being investigated for its potential to treat human autosomal dominant hearing loss (see [13]). This approach involves using AAV to deliver a healthy copy of the gene responsible for the hearing loss, thereby replacing the faulty gene and restoring normal hearing function.

It's worth noting that these approaches are still in the early stages of research and have not yet been proven to be effective in treating autosomal dominant nonsyndromic deafness. Further studies are needed to determine their safety and efficacy (see [6]).

In terms of current treatment options, it's essential to consult with a healthcare professional for medical advice and treatment (see [8]). They can provide guidance on the best course of action for individuals affected by autosomal dominant nonsyndromic deafness.

Autosomal dominant nonsyndromic deafness 78 (DFNA78) is a rare form of hearing loss that affects all frequencies and is characterized by profound congenital bilateral sensorineural hearing loss. To determine the differential diagnosis for DFNA78, it's essential to consider other forms of autosomal dominant nonsyndromic hearing loss.

• Progressive low-frequency hearing loss: DFNA1, caused by mutations in the DIAPH1 gene on chromosome 5q31, is a form of autosomal dominant nonsyndromic hearing loss that results in progressive low-frequency hearing loss [6].
• Post-lingual and progressive hearing loss: Autosomal-dominant forms of deafness are usually post-lingual and progressive, with dominant mutations often consistent with initial function and subsequent hearing loss [8].
• High-frequency hearing loss: In general, autosomal dominant nonsyndromic hearing loss is postlingual, progressive, and high frequency, although exceptions to this generalization may occur [10].

When considering the differential diagnosis for DFNA78, it's also essential to rule out other forms of hearing loss that may present with similar symptoms. These include:

• Autosomal recessive nonsyndromic hearing loss: This form of hearing loss is typically prelingual and can be caused by mutations in various genes, including the GJB2 gene [12].
• X-linked or mitochondrial inheritance: In cases where hearing loss is inherited in an X-linked or mitochondrial manner, it's essential to consider these possibilities when making a differential diagnosis.

To confirm a diagnosis of DFNA78, further genetic testing and evaluation by a specialist are typically necessary.