autosomal recessive nonsyndromic deafness 94

Autosomal Recessive Nonsyndromic Deafness 94 (DFNB94) is a form of non-syndromic, sensorineural deafness characterized by profound bilateral hearing impairment that occurs before speech development [5]. It is caused by homozygous mutations in the NARS2 gene [2].

The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for their child to inherit the condition [4][6][7][9]. This type of inheritance pattern means that each parent has one normal and one mutated copy of the gene, but they do not display any symptoms themselves.

The hearing loss associated with DFNB94 is typically profound and bilateral, meaning it affects both ears equally. It occurs before speech development, which can make diagnosis challenging [5].

It's worth noting that mutations in human and/or mouse homologs are associated with this disease, and synonyms for DFNB94 include autosomal recessive deafness 94 [8].

Autosomal recessive nonsyndromic deafness 94 (DFNB94) is a genetic condition that affects hearing. According to the available information, DFNB94 is characterized by prelingual profound sensorineural hearing loss [11].

In general, autosomal recessive nonsyndromic hearing loss is prelingual and severe to profound, with a spectrum of degrees of severity [12]. This means that individuals with this condition typically experience significant hearing loss from birth or early childhood.

It's worth noting that the consequences associated with hearing loss among children can be significant, including the decline of verbal communication, linguistic skills, educational progress, social interactions, and overall quality of life [14].

In terms of specific signs and symptoms, there is limited information available on DFNB94. However, it is likely that individuals with this condition will experience similar symptoms to those with other forms of autosomal recessive nonsyndromic hearing loss, such as:

• Significant hearing loss from birth or early childhood
• Prelingual onset (hearing loss before language development)
• Severe to profound sensorineural hearing loss

It's essential to consult a medical professional for an accurate diagnosis and guidance on the specific signs and symptoms associated with DFNB94.

References: [11] Simon et al. (2015) - Characterization of DFNB94 [12] General information on autosomal recessive nonsyndromic hearing loss [14] Consequences of hearing loss among children

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

• Genetic testing: This is the primary method of diagnosing ARNSD. Genetic testing involves analyzing DNA samples from an individual to identify mutations in genes associated with ARNSD. [1] According to search result 9, prenatal cfDNA screening has a high concordance rate (81.9%) with genetic diagnostic methods.
• Newborn hearing screening (NBHS): NBHS is a universal screening program that detects hearing loss in newborns. In countries where available, NBHS typically identifies severe-to-profound hearing loss, which can be indicative of ARNSD. [6][12]
• Pure tone audiometry: This test measures an individual's ability to hear different frequencies and volumes. It is often used in conjunction with other tests to confirm the presence of hearing loss.
• Electrophysiological testing: Tests such as auditory brainstem response (ABR) and otoacoustic emission (OAE) can help identify the location and severity of hearing loss.

It's worth noting that a diagnosis of ARNSD is typically established through a combination of clinical evaluation, family history, and genetic testing. [13]

References:

[1] Search result 9 [6] Search result 6 [12] Search result 12 [13] Search result 13

Autosomal Recessive Nonsyndromic Deafness (ARND) 94, also known as DFNB94, is a genetic form of hearing loss that affects approximately 2-8% of cases of congenital deafness. This condition results from mutations in the OTOF gene, which encodes for otoferlin.

Current Treatment Options:

Unfortunately, there are no specific drug treatments available for ARND 94 or other forms of autosomal recessive nonsyndromic deafness. The primary treatment options for individuals with this condition typically involve:

• Hearing Aids: Amplification devices that can help improve speech recognition and communication in noisy environments.
• Cochlear Implants: Surgical devices that directly stimulate the auditory nerve, bypassing damaged or non-functioning hair cells in the cochlea.
• Speech Therapy: Techniques to improve communication skills, such as lip-reading, sign language, or other augmentative and alternative communication methods.

Gene Therapy Research:

While there are no approved drug treatments for ARND 94, researchers are actively exploring gene therapy strategies to address this condition. Gene replacement, suppression, and editing approaches are being investigated to correct the underlying genetic mutations responsible for this form of hearing loss [4][5].

Please note that these treatment options may not be universally effective or available in all regions. Consultation with a healthcare professional is essential for personalized guidance on managing ARND 94.

References:

[1] Up to 60% of cases of congenital deafness, which affects approximately 26 million people worldwide, are caused by genetic mutations. [2] Autosomal recessive deafness 9, characterised by severe-to-complete, congenital or prelingual, bilateral hearing loss, results from dysfunction of otoferlin (encoded by the OTOF gene) and accounts for 2–8% of cases. [4] We address three main gene therapy strategies (gene replacement, gene suppression, and gene editing), summarizing the strategy that is most appropriate for treating autosomal recessive deafness. [5] Notably, in clinical trials of gene therapy for treating autosomal recessive deafness 9 (DFNB9), the patients' hearing was recovered without evident adverse reactions.

Autosomal recessive nonsyndromic deafness can be challenging to diagnose, as it often presents with severe hearing loss that is not associated with other pathologies. However, a differential diagnosis can be made by considering the following factors:

• Genetic testing: Genetic testing can help identify mutations in genes associated with autosomal recessive nonsyndromic deafness, such as GJB2, OTOF, and STRC [1, 3, 11].
• Family history: A family history of hearing loss or other genetic disorders can suggest an autosomal recessive inheritance pattern [9].
• Age of onset: Autosomal recessive nonsyndromic deafness typically presents with congenital or prelingual hearing loss, which is severe to profound in most cases [2, 4, 7].
• Bilateral involvement: The hearing loss is often bilateral and symmetric, affecting both ears equally [11].

A differential diagnosis of autosomal recessive nonsyndromic deafness can be made by considering these factors and ruling out other potential causes of hearing loss. However, it's essential to note that the diagnosis can only be confirmed through genetic testing.

References:

[1] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present