autosomal recessive nonsyndromic deafness 36

Autosomal recessive nonsyndromic deafness 36 (DFNB36) is a type of hearing impairment that affects one or both ears, caused by an abnormal functioning of the cochlear nerve. This condition is characterized by prelingual onset, meaning it typically manifests before speech development.

The genetic cause of DFNB36 is attributed to mutations in the ESPN gene located on chromosome [3]. These mutations lead to a disruption in the normal functioning of the cochlear nerve, resulting in hearing loss.

DFNB36 can be inherited in an autosomal recessive pattern, where a person must inherit two copies of the mutated gene (one from each parent) to express the condition. This means that carriers of the mutated gene may not show symptoms themselves but can pass it on to their offspring [4].

In some cases, DFNB36 has been associated with vestibular involvement, meaning it can also affect balance and equilibrium [8]. However, this is not a universal feature of the condition.

It's worth noting that autosomal dominant deafness 36 (DFNA36) is another form of nonsyndromic hearing loss caused by mutations in different genes, but it typically presents with postlingual onset and is characterized by flat or gently downsloping, progressive sensorineural hearing loss [7].

References: [1] - Description of the condition [3] - Genetic cause of DFNB36 [4] - Inheritance pattern of DFNB36 [8] - Vestibular involvement in some cases

Autosomal recessive nonsyndromic deafness 36, also known as DFNB36, is a genetic disorder that affects hearing. The signs and symptoms of this condition are not well-documented in the provided context, but we can infer some information from search result [2].

According to search result [2], autosomal recessive nonsyndromic deafness 36 is one of the most common causes of moderate autosomal recessive nonsyndromic hearing loss. However, there is no specific mention of signs and symptoms associated with this condition.

It's worth noting that the provided context does not provide any direct information on the signs and symptoms of DFNB36. However, we can make an educated guess based on general knowledge about autosomal recessive nonsyndromic deafness.

Typically, autosomal recessive nonsyndromic deafness is characterized by:

• Congenital or prelingual hearing loss (search result [9])
• Severe to profound deafness affecting all frequencies (search result [9])
• No apparent vestibular dysfunction in some cases (search result [6])

However, it's essential to note that these are general characteristics of autosomal recessive nonsyndromic deafness and not specific to DFNB36.

Unfortunately, without more specific information on DFNB36, we cannot provide a detailed list of signs and symptoms. If you have any further questions or would like me to search for more information, please let me know!

Based on the provided context, there are several diagnostic tests that can be used to identify autosomal recessive nonsyndromic deafness 36.

• Deletion/duplication analysis: This test is mentioned in search result 1 and can be used to detect deletions or duplications of genetic material associated with autosomal recessive nonsyndromic deafness 36.
• Targeted variant analysis: As per search result 1, this test involves analyzing specific genetic variants that are known to cause autosomal recessive nonsyndromic deafness 36.
• Sequence analysis of select exons: Search result 1 mentions sequence analysis of select exons as a diagnostic test for autosomal recessive nonsyndromic deafness 36. This test involves analyzing the DNA sequence of specific exons that are known to be associated with this condition.

Additionally, search result 11 mentions Clinical Molecular Genetics test offered by Centogene AG - the Rare Disease Company, which includes Deletion/duplication analysis and CNV by qPCR as diagnostic tests for autosomal recessive nonsyndromic hearing loss 36.

It's worth noting that genetic testing can confirm the presence of DFNB36 in individuals experiencing hearing loss, allowing for a more accurate diagnosis and better management of the condition (search result 8).

References: [1] [2] [11]

Unfortunately, there isn't much information in the search results about drug treatment for autosomal recessive nonsyndromic deafness.

However, I can tell you that gene therapy is being explored as a potential treatment approach for hereditary deafness, including autosomal recessive nonsyndromic deafness [2]. Additionally, cochlear implants or hearing aids are currently the main clinical treatments for this condition [5].

It's worth noting that there isn't much information in the search results about specific drug treatments for autosomal recessive nonsyndromic deafness. However, it's always best to consult with a healthcare professional for medical advice and treatment [9].

Autosomal Recessive Nonsyndromic Deafness (ARNSD) Differential Diagnosis

ARNSD 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. The differential diagnosis for ARNSD involves identifying other conditions that may present with similar symptoms.

Conditions to Consider:

• Autosomal Dominant Nonsyndromic Deafness: This is another type of hearing loss that is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to express the condition. However, the genetic mutations responsible for ARNSD and ADNSD are different.
• Usher Syndrome: A genetic disorder that affects the eyes and ears, causing progressive vision and hearing loss.
• Pendred Syndrome: A genetic disorder that causes congenital bilateral sensorineural hearing loss and goiter (enlargement of the thyroid gland).
• Connexin 26 Deafness: A type of hearing loss caused by mutations in the GJB2 gene, which codes for connexin 26.
• Other Genetic Causes: Such as mitochondrial DNA mutations or other genetic syndromes that can cause hearing loss.

Key Features to Distinguish ARNSD from Other Conditions:

• Family History: A thorough family history is essential to determine the inheritance pattern and identify potential carriers of the mutated gene.
• Age of Onset: ARNSD typically presents with congenital or early childhood onset, whereas other conditions may present later in life.
• Type of Hearing Loss: ARNSD is characterized by bilateral sensorineural hearing loss, while other conditions may cause conductive or mixed hearing loss.

References:

• [1] "Autosomal Recessive Nonsyndromic Deafness" (ARNSD) - A review of the literature on the genetic and clinical aspects of ARNSD.
• [2] "Usher Syndrome" - A comprehensive overview of the condition, including its genetic causes and clinical features.
• [3] "Pendred Syndrome" - A detailed description of the condition, including its genetic causes and clinical manifestations.

Note: The above information is a general summary of the differential diagnosis for ARNSD. It is essential to consult with a qualified healthcare professional or a genetic counselor for personalized advice and guidance.