autosomal recessive nonsyndromic deafness 91

Autosomal Recessive Nonsyndromic Deafness 91 (ARND 91) is a type of non-syndromic deafness characterized by progressive sensorineural hearing loss that worsens with age [1]. This condition affects the inner ear, leading to a decline in hearing abilities over time.

Key features of ARND 91 include:

• Progressive hearing loss: The condition leads to a gradual worsening of hearing abilities, particularly in the high-frequency range [2].
• Age-dependent: The severity and progression of hearing loss are influenced by age, with symptoms typically appearing later in life [3].
• Vestibular function is normal: Unlike some other forms of deafness, ARND 91 does not affect balance or equilibrium [4].

It's essential to note that autosomal recessive nonsyndromic deafness, including ARND 91, can be caused by mutations in various genes. In the case of ARND 91, the condition is associated with a mutation in the SERPINB6 gene on chromosome 6p25 [5].

Overall, ARND 91 is a specific type of non-syndromic deafness that requires accurate diagnosis and management to address its progressive nature.

References: [1] Context result 1 [2] Context result 2 [3] Context result 5 [4] Context result 2 [5] Context result 6

Autosomal recessive nonsyndromic deafness, also known as DFNB, is a type of hearing loss that occurs when there are mutations in both copies of a gene. This condition typically presents with signs and symptoms related to hearing loss.

Primary Symptoms:

• Hearing Loss: The most common symptom of autosomal recessive nonsyndromic deafness is a partial or total loss of hearing, which can be bilateral (in both ears) or unilateral (in one ear).
• Early-Onset Hearing Loss: In many cases, the hearing loss begins early in life, often at birth or during infancy.
• Severe to Profound Hearing Loss: The degree of hearing loss can vary from severe to profound.

Additional Symptoms:

• Balance Problems: Some individuals with autosomal recessive nonsyndromic deafness may experience balance problems or vestibular areflexia (a condition characterized by a lack of response to vestibular stimulation).
• No Other Signs or Symptoms: Unlike syndromic hearing loss, autosomal recessive nonsyndromic deafness is not typically associated with other signs or symptoms affecting other parts of the body.

Genetic Causes:

• Mutations in Multiple Genes: Autosomal recessive nonsyndromic deafness can be caused by mutations in more than 60 different genes, including ESPN and MYO15A.
• Biallelic Mutations: The condition typically requires biallelic mutations (mutations in both copies of a gene) to occur.

References:

• [1] In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body. ... (Search Result 12)
• [2] Nonsyndromic deafness is a partial or total loss of hearing that is not associated with other signs or symptoms. (Search Result 13)
• [3] Biallelic mutations in 42 different genes have so far been reported for autosomal recessive nonsyndromic hearing loss (ARNSHL), which explains more than 50% of families with this type of deafness in many populations. (Search Result 14)

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

• Genetic testing: Molecular genetic testing is available for many types of syndromic and nonsyndromic deafness, including ARNSD [8]. This type of testing can identify mutations in genes associated with hearing loss.
• GJB2 gene testing: The GJB2 gene is a common cause of congenital severe-to-profound non-progressive sensorineural hearing loss. Genetic testing for the GJB2 gene can help establish the diagnosis of ARNSD [10].
• Other genetic tests: In addition to GJB2, other genes such as GJB6, SLC26A

Autosomal recessive nonsyndromic deafness, also known as non-syndromic hearing loss (NSHL), is a type of hearing impairment that is inherited in an autosomal recessive pattern. While there are no specific drug treatments for this condition, researchers have been exploring various therapeutic approaches to manage and potentially cure NSHL.

Current Treatment Options

According to the available information [8], current clinical treatments for NSHL include:

• Cochlear implants: These devices can bypass damaged or non-functioning parts of the ear and directly stimulate the auditory nerve, allowing individuals with severe hearing loss to perceive sound.
• Hearing aids: Amplifying sound through a device that is worn on the body can help improve communication skills in individuals with mild to moderate hearing loss.

Emerging Therapies

Gene therapy has emerged as a promising approach for treating hereditary deafness, including autosomal recessive nonsyndromic deafness [2]. Researchers have been exploring the use of adeno-associated viruses (AAVs) to deliver genes that can restore or improve hearing function. While this area is still in its early stages, it holds significant potential for future therapeutic applications.

Other Therapeutic Approaches

In addition to gene therapy, other emerging therapies being investigated for NSHL include:

• Stem cell therapy: This approach aims to repair or replace damaged cells within the ear, potentially restoring hearing function.
• Small molecule therapeutics: Researchers are exploring the use of small molecules to target specific molecular pathways involved in hearing loss.

Consult a Healthcare Professional

It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on individual circumstances and help determine the most effective course of action [9].

References:

[2] by H Wang · 2024 · Cited by 11 — Gene therapy is a promising approach for hereditary deafness.

[8] Aug 31, 2022 — Of the non-syndromic hearing loss, 60-80 percent is autosomal recessive...

[9] Please consult with a healthcare professional for medical advice and treatment.

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, as it often presents with similar symptoms to other forms of hearing loss. A differential diagnosis is essential to rule out other conditions and confirm the presence of ARNSHL.

To make an accurate differential diagnosis, consider the following:

• Genetic testing: Genetic testing for mutations in genes associated with ARNSHL, such as GJB2, OTOF, and TMIE, can help confirm the diagnosis [1][3][7].
• Family history: A thorough family history is crucial to determine if there is a pattern of inheritance consistent with an autosomal recessive condition [6].
• Age of onset: ARNSHL typically presents at birth or in early childhood, whereas other forms of hearing loss may have a later age of onset [4][5].
• Severity and progression: The severity and progression of hearing loss can also help differentiate ARNSHL from other conditions. In most cases, ARNSHL leads to severe-to-profound bilateral deafness without inner-ear anomalies on imaging studies [3].

A panel like the Igenomix Syndromic and Nonsyndromic Deafness Precision Panel can be used to make an accurate diagnosis as well as a differential diagnosis of various forms of hearing loss, including ARNSHL [8]. This panel can help identify specific genetic mutations associated with different types of hearing loss.

By considering these factors and using specialized diagnostic tools, healthcare professionals can accurately diagnose autosomal recessive nonsyndromic deafness and rule out other potential causes of hearing loss.