autosomal recessive nonsyndromic deafness 93

Autosomal recessive nonsyndromic deafness 93 (DFNB93

Autosomal recessive nonsyndromic deafness (ARNSHL) can manifest in various ways, depending on the underlying genetic mutation. Here are some common signs and symptoms associated with ARNSHL:

• Prelingual onset: Hearing loss typically begins before a person starts speaking, often at birth or shortly after.
• Congenital or severe to profound deafness: Individuals with ARNSHL may experience significant hearing impairment, affecting all frequencies.
• Stable hearing loss: The degree of hearing loss tends to remain stable over time, without progressive deterioration.

It's essential to note that the symptoms can vary in severity and presentation among individuals. Some people may have mild hearing loss, while others may experience more severe impairments.

According to [3], the clinical spectrum of ARNSHL can range from the lack of symptoms to vertigo and deafness. This highlights the variability in symptom presentation within this condition.

In some cases, individuals with ARNSHL may not exhibit any noticeable symptoms until they are tested for hearing loss. Therefore, early detection through genetic testing or audiological evaluations is crucial for accurate diagnosis and management.

References: [1] - Not directly relevant to signs and symptoms [2] - Does not provide specific information on signs and symptoms [3] The clinical spectrum may range from the lack of symptoms to vertigo and deafness. Autosomal recessive causes for NSHL. [4] - Does not provide specific information on signs and symptoms [5] - Not directly relevant to signs and symptoms [6] - Does not provide specific information on signs and symptoms [7] - Provides general information, but does not specifically address signs and symptoms of ARNSHL [8] - Describes a related condition, but does not provide information on signs and symptoms of ARNSHL [9] For example, autosomal recessive deafness typically presents as a congenital or prelingual, severe to profound deafness affecting all frequencies while

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: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSD [8]. This test can identify mutations in genes associated with hearing loss.
• GJB2 gene testing: The GJB2 gene is the most common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish a diagnosis of ARNSD [10].
• Parental carrier testing: If there's a family history of ARNSD, parental carrier testing should be offered to confirm that parents are carriers and that the risk of passing on the condition is higher [7].
• Prenatal cfDNA screening: Prenatal cfDNA screening can detect fetal genotypes for autosomal recessive non-syndromic hearing loss with a high degree of accuracy, with concordance rates varying depending on parental genotypes and fetal variants [14].

It's essential to note that the diagnosis of ARNSD is established in a proband (an individual with the condition) with suggestive findings and confirmed by genetic testing. A comprehensive analysis of deafness genes can also be performed in families with autosomal recessive nonsyndromic hearing loss [12].

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of cases of non-syndromic hearing loss. As of my knowledge cutoff in 2024, there is no specific drug treatment available for autosomal recessive nonsyndromic deafness.

However, researchers are exploring various gene therapy approaches to treat this condition. For example, a study published in 2023 demonstrated the effectiveness of AAV1-hOTOF gene therapy in treating hereditary deafness [5]. Another study from 2024 discussed the potential of gene therapy based on adeno-associated viruses (AAVs) for the treatment of hereditary deafness [7].

Currently, the primary treatments for autosomal recessive nonsyndromic deafness are cochlear implants or hearing aids. These devices can significantly improve communication and quality of life for individuals with this condition.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual circumstances [9].

References: [5] Jiang, L. (2023). Hereditary hearing loss: A review of current clinical treatments and emerging gene therapy approaches. [7] Brotto, D. (2024). Gene therapy for hereditary deafness: A new frontier in treatment options. [9] Disease Overview. Any autosomal recessive nonsyndromic deafness in ...

Autosomal recessive nonsyndromic deafness can be challenging to diagnose, as it often presents with severe or profound hearing loss without any other associated symptoms. However, there are several genes that have been identified as contributing to this condition.

Differential Diagnosis:

• 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].
• STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2 [11].
• OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT [4].

Genetic Heterogeneity:

More than 70 genes have been associated with autosomal recessive nonsyndromic hearing loss (ARNSHL), making differential diagnosis a complex task [10]. In some cases, the only finding is hearing loss, and it is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with ARNSHL [14].

Newborn Hearing Screening:

In countries where available, newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss associated with GJB2-AR NSHL [12]. However, it is essential to note that NBHS may not detect all cases of autosomal recessive nonsyndromic deafness.

References:

• [10] 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.
• [11] STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2.
• [4] OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT.
• [14] More than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL).