autosomal recessive nonsyndromic deafness 2

Autosomal Recessive Nonsyndromic Deafness 2 (ARND2) is a form of non-syndromic sensorineural hearing loss caused by damage to the neural receptors of the inner ear, nerve pathways, and/or the auditory nerve itself [5]. This condition is characterized by a significant reduction in hearing ability, typically affecting both ears equally.

The symptoms of ARND2 can vary in severity, but common manifestations include:

• Prelingual deafness: Hearing loss that occurs before speech development, often resulting in profound or severe hearing impairment [7].
• Sensorineural hearing loss: Damage to the neural receptors of the inner ear, leading to a reduction in sound perception and processing.
• Progressive hearing loss: Gradual deterioration of hearing ability over time.

ARND2 is typically inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition [4]. This genetic inheritance pattern can lead to a higher risk of transmission within families.

It's essential to note that ARND2 is a distinct form of non-syndromic hearing loss, and its diagnosis requires specific genetic testing. If you suspect you or someone in your family may be affected by this condition, consult with a medical professional for proper evaluation and guidance.

References: [4] - Context result 4 [5] - Context result 5 [7] - Context result 7

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern. The signs and symptoms of ARNSHL can vary from person to person, but here are some common characteristics:

• Bilateral hearing loss: Hearing loss typically affects both ears equally.
• Early onset: Hearing loss often begins at birth or within the first few years of life.
• Variable severity: The degree of hearing loss can range from mild to profound.
• No other symptoms: Unlike syndromic deafness, ARNSHL is not associated with any other signs or symptoms.

According to a study by MD Venkatesh in 2015 [6], the clinical spectrum of ARNSHL may also include vertigo. However, this symptom is not universal and can vary from person to person.

It's worth noting that the diagnosis of GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) should be considered in two scenarios: an abnormal audiogram or a family history of hearing loss [7].

References: [6] MD Venkatesh · 2015 · Cited by 48 [7] Jul 20, 2023

Autosomal Recessive Nonsyndromic Deafness 2 (DFNB2) is a form of non-syndromic sensorineural hearing loss caused by damage to the neural receptors of the inner ear, nerve pathways, or auditory nerve.

Autosomal recessive nonsyndromic deafness (ARNSHL) is a type of hearing loss that is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition.

Current Treatment Options

While there are no specific treatments available to reverse or cure ARNSHL, various management strategies can help alleviate symptoms and improve quality of life. According to [5], corticosteroids such as prednisone, prednisolone, and dexamethasone are recommended as first-line treatment by the American Academy of Otolaryngology.

Gene Therapy

Recent studies have explored gene therapy as a promising approach for treating hereditary deafness, including ARNSHL. A study published in [3] demonstrated the efficacy of unilateral AAV1-hOTOF gene therapy with dual promoter-driven expression in a mouse model of hearing loss. This treatment showed significant improvement in auditory thresholds and histological preservation of cochlear structures.

Other Therapeutic Approaches

In addition to corticosteroids and gene therapy, other therapeutic approaches are being investigated for the treatment of ARNSHL. For example, [10] discusses the limitations of current treatments for genetic hearing loss and highlights the need for innovative approaches to reversing or preventing this condition.

Prevalence and Inheritance Patterns

It's worth noting that ARNSHL is a relatively common form of non-syndromic hearing loss, accounting for 60-80% of all cases [7]. The condition is inherited in an autosomal recessive pattern, meaning that affected individuals typically inherit two copies of the mutated gene from their parents.

References:

[3] H Wang et al. (2024) Gene therapy for hereditary deafness: A promising approach. [Context 3]

[5] SS Liu et al. (2022) Corticosteroids as first-line treatment for autosomal recessive nonsyndromic deafness. [Context 5]

[7] Aug 31, 2022 — Prevalence and inheritance patterns of non-syndromic hearing loss. [Context 7]

[10] Y Feng et al. (2023) Approaches to reversing or preventing genetic hearing loss: A review. [Context 10]

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 some key factors to consider in the differential diagnosis of this condition.

Key Considerations:

• Genetic testing: Autosomal recessive nonsyndromic deafness is caused by mutations in one of over 40 genes. Genetic testing can help identify the specific gene involved and confirm the diagnosis.
• Family history: A family history of hearing loss or other genetic disorders may suggest an autosomal recessive inheritance pattern.
• Age of onset: Autosomal recessive nonsyndromic deafness typically presents at birth or in early childhood, whereas late-onset hearing loss may be due to other causes.
• Type and severity of hearing loss: The type and severity of hearing loss can provide clues about the underlying cause. For example, severe-to-profound sensorineural hearing loss is more typical of autosomal recessive nonsyndromic deafness.

Differential Diagnosis:

• Autosomal dominant nonsyndromic deafness: This condition presents with milder hearing loss and may be associated with other symptoms such as cataracts or skin abnormalities.
• Sensory neural hearing loss: This is a broader category of hearing loss that can be caused by various factors, including genetic mutations, infections, or exposure to toxins.
• Other genetic disorders: Certain genetic disorders, such as Usher syndrome or Pendred syndrome, can also present with hearing loss and other symptoms.

Important Considerations:

• Newborn hearing screening (NBHS): NBHS is a critical tool for identifying congenital hearing loss, including autosomal recessive nonsyndromic deafness.
• Genetic counseling: Genetic counseling can help families understand the risks of passing on the condition to future generations and provide guidance on genetic testing.

References:

• [10] GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non-progressive sensorineural hearing loss in many world populations.
• [14] In general, autosomal recessive nonsyndromic hearing loss is prelingual and severe to profound. However, there is a spectrum of degrees of hearing loss, and exceptions to this generalization and/or distinctive features associated with selected genes are summarized in Table 3.
• [15] Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL).