autosomal recessive nonsyndromic deafness 110

Autosomal Recessive Nonsyndromic Deafness 110, also known as DFNB110, is a form of non-syndromic sensorineural hearing loss. This condition is characterized by prelingual hearing loss, meaning that it affects individuals before they develop language skills.

According to the available information, mutations in human and/or mouse homologs are associated with this disease [5]. It's worth noting that autosomal recessive deafness 110 is a specific type of non-syndromic hearing loss, which means that it does not occur as part of a broader syndrome or set of symptoms.

In terms of inheritance, autosomal recessive nonsyndromic deafness 110 follows an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition. This is in contrast to autosomal dominant conditions, where a single copy of the mutated gene can cause the disease [13].

It's also worth noting that autosomal recessive nonsyndromic deafness 110 is one of many forms of non-syndromic hearing loss, which collectively account for approximately 80% of cases of prelingual hearing loss [11].

Autosomal recessive nonsyndromic deafness (ARNSD) can manifest in various ways, depending on the individual case. However, based on the available information, here are some common signs and symptoms associated with ARNSD:

• Prelingual onset: The hearing loss typically begins before a person starts speaking, which means they may not have any noticeable symptoms until they are old enough to be aware of their surroundings [3].
• Severe to profound hearing loss: In most cases, the hearing loss is severe to profound and stable over time, meaning it does not tend to progress or worsen with age [4][8].
• Prelingual onset with usually stable hearing loss: The hearing loss tends to be prelingual, which means it occurs before a person starts speaking, and is usually stable, meaning it does not tend to change much over time [3][8].

It's worth noting that the severity of the hearing loss can vary from person to person, but in general, ARNSD tends to cause significant hearing impairment.

References:

[3] - 3. by LX Zhong · 2013 · Cited by 28 — Autosomal recessive deafness tend to cause severe, prelingual deafness involving all frequencies; autosomal dominant loci are typically less severe, ...

[4] - 4. by LX Zhong · 2013 · Cited by 28 — Autosomal recessive deafness tend to cause severe, prelingual deafness involving all frequencies; autosomal dominant loci are typically less severe, ...

[8] - 8. An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material ...

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a genetic disorder that affects hearing, and diagnostic tests play a crucial role in its identification. Here are some key points related to the diagnostic tests for ARNSD:

• Genetic Testing: Genetic testing is considered the gold standard for diagnosing ARNSD. It involves analyzing DNA samples from affected individuals or family members to identify mutations in genes associated with hearing loss, such as GJB2, GJB3, and GJB6 [1].
• Audiological Assessment: Audiological assessment, including pure-tone audiometry and speech audiometry, is essential for evaluating the extent of hearing loss in individuals suspected of having ARNSD [2].
• Family History: A thorough family history is crucial in identifying patterns of inheritance and potential genetic causes of hearing loss. This information can guide further diagnostic testing [3].
• Molecular Genetic Testing: Molecular genetic testing, such as next-generation sequencing (NGS), can be used to identify mutations in genes associated with ARNSD. This testing can also help rule out other genetic conditions that may cause hearing loss [4].

It's essential to note that the diagnosis of ARNSD is often established through a combination of these diagnostic tests and a thorough clinical evaluation.

References:

[1] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital severe-to-profound non-progressive sensorineural hearing loss in many world populations. [10]

[2] The otolaryngologist will consider family history, gestational history, physical examination, audiometric testing, and molecular genetic testing when evaluating individuals with suspected ARNSD. [3]

[3] Family history is crucial in identifying patterns of inheritance and potential genetic causes of hearing loss. [13]

[4] Molecular genetic testing can be used to identify mutations in genes associated with ARNSD and rule out other genetic conditions that may cause hearing loss. [8]

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

However, according to search result [7], current therapies for hearing loss include hearing aids or cochlear implants. There is no mention of biological therapies, including drugs, specifically for autosomal recessive nonsyndromic deafness.

It's worth noting that gene therapy has been explored as a potential treatment for certain forms of genetic hearing loss, including autosomal recessive deafness (search result [12]). However, this is still an emerging area of research and not yet widely available as a treatment option.

In summary, there are no established drug treatments specifically for autosomal recessive nonsyndromic deafness. Treatment options may include hearing aids or cochlear implants, but further research is needed to explore potential biological therapies, including gene therapy.

Current therapies for hearing loss include hearing aids or cochlear implants. [7] Gene therapy has been explored as a potential treatment for certain forms of genetic hearing loss, including autosomal recessive deafness. [12]