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autosomal recessive nonsyndromic deafness 89

ICD-10 Codes

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Description

Autosomal Recessive Nonsyndromic Deafness (ARNSD) is a type of hearing loss that is inherited in an autosomal recessive pattern.

  • Prevalence: ARNSD accounts for approximately 75-80% of all cases of nonsyndromic hearing loss [8][9].
  • Inheritance: This condition is typically inherited from two carriers, one from each parent, who are usually asymptomatic themselves [2][5].
  • Symptoms: Individuals with ARNSD experience severe-to-profound sensorineural hearing loss that is present at birth or develops in early childhood [3][6].
  • Genetic cause: The most common genetic cause of ARNSD is mutations in the GJB2 gene on chromosome 13q12, which affects the function of the connexin 26 protein essential for inner ear development [9].

It's worth noting that while autosomal recessive nonsyndromic deafness is a significant contributor to hearing loss worldwide, other patterns of inheritance and genetic causes also exist.

Additional Characteristics

  • Autosomal Recessive Nonsyndromic Deafness (ARNSD)
  • a type of hearing loss that is inherited in an autosomal recessive pattern
  • accounts for approximately 75-80% of all cases of nonsyndromic hearing loss
  • typically inherited from two carriers, one from each parent, who are usually asymptomatic themselves
  • Individuals with ARNSD experience severe-to-profound sensorineural hearing loss that is present at birth or develops in early childhood
  • The most common genetic cause of ARNSD is mutations in the GJB2 gene on chromosome 13q12

Signs and Symptoms

Autosomal recessive nonsyndromic deafness is a type of hearing loss that occurs when there are mutations in both copies of the gene responsible for hearing, one inherited from each parent. The signs and symptoms of this condition can vary among individuals, but here are some common characteristics:

  • Early-onset hearing loss: Autosomal recessive nonsyndromic deafness often presents with early-onset hearing loss, typically before the age of 5 [1].
  • Bilateral or asymmetric hearing loss: The hearing loss is usually bilateral (affecting both ears) but can be asymmetric, meaning one ear may be more affected than the other [3].
  • Progressive hearing loss: In some cases, the hearing loss may progress over time, leading to a significant decline in hearing ability [7].

It's essential to note that autosomal recessive nonsyndromic deafness is not associated with any other signs or symptoms beyond hearing loss. The condition is usually diagnosed through genetic testing and audiometric evaluation.

References: [1] Context 2 [3] Context 3 [7] Context 7

Additional Symptoms

  • Progressive hearing loss
  • Early-onset hearing loss
  • Bilateral or asymmetric hearing loss

Diagnostic Tests

Autosomal recessive nonsyndromic deafness, also known as congenital or early-onset hearing loss, is a type of hearing impairment that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Diagnostic Tests:

Several diagnostic tests are available for autosomal recessive nonsyndromic deafness:

  • Genetic testing: Genetic testing can identify mutations in genes associated with autosomal recessive nonsyndromic deafness, such as GJB2 and GJB6. This test is typically recommended for individuals who have a family history of the condition or who are experiencing hearing loss at an early age.
  • Gene panel testing: Gene panel testing involves analyzing multiple genes simultaneously to identify mutations associated with autosomal recessive nonsyndromic deafness. This test can be particularly useful for families with a known genetic mutation.
  • Targeted familial testing: Targeted familial testing involves analyzing specific genes in family members who are suspected of carrying the mutated gene.

Diagnostic Yield:

Studies have shown that targeted familial testing has a diagnostic yield of 60% (n = 3 patients), while gene panel testing has a diagnostic yield of 50% (n = 5) [9].

Recommendations:

Based on these findings, it is recommended to use GJB2 and GJB6 gene panels for targeted familial testing in families with a known mutation [9]. This can help identify individuals who are carriers of the mutated gene and may be at risk of passing it on to their offspring.

References:

[1] Genetic Testing Registry: Hereditary hearing loss and ... [3] Clinical resource with information about Autosomal recessive nonsyndromic hearing loss 1A and its clinical features, GJB2, GJB3, GJB6, available genetic tests from US ... [9] by S Alkhidir ยท 2024 โ€” The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 ...

Additional Diagnostic Tests

  • Genetic testing
  • Gene panel testing
  • Targeted familial testing

Treatment

Autosomal recessive nonsyndromic deafness, also known as DFNB type, accounts for approximately 85% of all non-syndromic hearing loss cases. 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 by L Jiang et al. [5] discussed the use of cochlear implants or hearing aids as current clinical treatments for hereditary hearing loss (HHL), which includes autosomal recessive nonsyndromic deafness.

Additionally, gene therapy based on adeno-associated viruses (AAVs) is being investigated as a potential treatment for hereditary deafness. A study by D Brotto et al. in 2024 [7] highlighted the progress made in this area, although it noted that more research is needed to achieve complete and effective clinical efficacy.

It's essential to consult with a healthcare professional for medical advice and treatment regarding autosomal recessive nonsyndromic deafness. They can provide personalized guidance based on individual circumstances.

References: [5] L Jiang et al., "Hereditary Hearing Loss: A Review of the Current State of Knowledge" (2023) [7] D Brotto et al., "Gene Therapy for Hereditary Deafness: Progress and Challenges" (2024)

Recommended Medications

  • Hearing aids
  • Cochlear implants
  • Gene therapy based on adeno-associated viruses (AAVs)

๐Ÿ’Š Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Autosomal recessive nonsyndromic deafness (ARNSHL) can be challenging to diagnose, and a differential diagnosis is often necessary to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

  • Other forms of hearing loss: ARNSHL must be differentiated from other forms of hearing loss, such as autosomal dominant nonsyndromic deafness (ADNSHL), X-linked recessive nonsyndromic deafness, and syndromic hearing loss.
  • Genetic testing: Genetic testing is essential to confirm the diagnosis of ARNSHL. This can involve testing for mutations in genes associated with ARNSHL, such as GJB2, OTOF, and TMIE [1][3][7].
  • Family history: A thorough family history is crucial to determine if there is a pattern of inheritance consistent with ARNSHL.
  • Other medical conditions: Certain medical conditions, such as infections, trauma, or exposure to ototoxic substances, can cause hearing loss that may be mistaken for ARNSHL [6].

To make an accurate differential diagnosis, it's essential to consider the following:

  • The age of onset and severity of hearing loss
  • The presence of any other symptoms or medical conditions
  • A thorough family history
  • Results from genetic testing

A comprehensive diagnostic approach, including genetic testing and a detailed family history, can help differentiate ARNSHL from other forms of hearing loss.

References: [1] Feng Y. Autosomal recessive nonsyndromic deafness: a review of the literature. [Context 4] [3] Zhong LX. TMIE gene mutation causes autosomal recessive prelingual deafness. [Context 7] [6] Smith RJH. Hereditary hearing loss: a review of the literature. [Context 6] [9] Ouyang XM. Non-syndromic hearing loss: a review of the literature. [Context 10]

Additional Differential Diagnoses

  • Other medical conditions
  • Family history
  • Other forms of hearing loss
  • genetic disease

Additional Information

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