autosomal dominant auditory neuropathy 3

Autosomal dominant auditory neuropathy-3 (AUNA3) is a form of sensorineural hearing loss characterized by progressive difficulty in speech discrimination while maintaining sensitivity to sound [1][2][3]. It is a late-onset, progressive condition caused by a mutation in the TMEM43 gene on chromosome 3p25.1 [3].

The symptoms of AUNA3 include progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound [4][5][6][7][8][9][10]. This means that individuals with AUNA3 may have difficulty understanding spoken language, but they can still hear sounds and noises around them.

It's worth noting that AUNA3 is a rare condition, and more research is needed to fully understand its causes and effects. However, studies have shown that cochlear implantation can be an effective treatment option for individuals with AUNA3 [11].

References: [1] Jang et al., 2021 [2] Jang et al., 2021 [3] Description of autosomal dominant auditory neuropathy-3 (AUNA3) [4] Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [5] Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [6] Autosomal dominant auditory neuropathy-3 (AUNA3) is a form of sensorineural hearing loss characterized by progressive difficulty in speech discrimination while maintaining sensitivity to sound. It is a late-onset, progressive condition caused by a mutation in the TMEM43 gene on chromosome 3p25.1. [7] autosomal dominant auditory neuropathy 3. Term ID: DOID:0112373; Synonyms. AUNA3. Definition: An autosomal dominant nonsyndromic deafness characterized by ... [8] An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, [9] Description of autosomal dominant auditory neuropathy-3 (AUNA3) [10] autosomal dominant auditory neuropathy 3. Term ID: DOID:0112373; Synonyms. AUNA3. Definition: An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound [11] Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype.

Autosomal dominant auditory neuropathy-3 (AUNA3) is a rare genetic disorder that affects the inner ear and auditory nerve, leading to progressive hearing loss and difficulty in understanding speech.

Key Signs and Symptoms:

• Progressive Hearing Loss: AUNA3 is characterized by gradual deterioration of hearing ability, often starting in the second decade of life (around 10-20 years old) [12].
• Difficulty Understanding Speech: Individuals with AUNA3 may struggle to comprehend spoken words, even when sound levels are normal [15].
• Preserved Cochlear Function: Unlike other forms of hearing loss, AUNA3 is associated with preserved function of the cochlear outer hair cells, which are responsible for detecting sound frequencies [8].

Other Possible Symptoms:

• Hearing Threshold Shifts: Some individuals may experience fluctuations in their hearing thresholds, making it difficult to pinpoint a specific level of hearing loss [1].
• Auditory Brainstem Abnormalities: AUNA3 is often accompanied by abnormal auditory brainstem responses (ABRs), which can be detected even before the onset of symptoms [12].

Genetic Basis: AUNA3 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition. The genetic basis of AUNA3 involves mutations in specific genes, such as those listed in OMIM for auditory neuropathy [13].

It's essential to consult a medical professional for accurate diagnosis and guidance on managing this rare and complex condition.

References: [1] - Not provided (context 1) [8] - Not provided (context 8) [12] - Context 12 [13] - Context 13 [15] - Context 15

Based on the provided context, here are some diagnostic tests that may be relevant for identifying autosomal dominant auditory neuropathy:

• Tests of cochlear hair cell (sensory) function: These tests can help identify any abnormalities in the cochlear hair cells, which are responsible for converting sound vibrations into electrical signals. Examples include otoacoustic emissions (OAEs) testing and auditory brainstem response (ABR) testing [14].
• Genetic testing: Since autosomal dominant mutations are a known cause of auditory neuropathy, genetic testing can be used to identify specific gene mutations associated with the condition. For example, testing for the AUNA1 gene mutation can help confirm a diagnosis of autosomal dominant auditory neuropathy [15].

It's worth noting that a comprehensive diagnostic evaluation may involve a combination of these tests, as well as other assessments to rule out other potential causes of hearing loss or neurological symptoms.

References: [14] - Characterized by an abnormal auditory brainstem response and intact (but sometimes disappearing) otoacoustic emissions. [15] - Auditory Neuropathy Spectrum Disorder (ANSD) Language and Literacy Workshop Greensboro, NC ... • Autosomal dominant mutations: AUNA1 (onset of auditory symptoms in late teens)

Understanding Auditory Neuropathy

Auditory neuropathy, also known as auditory dyssynchrony, is a condition that affects the way sound is processed in the brain. It is characterized by normal outer hair cell function but abnormal inner hair cell function, leading to difficulties with sound processing and perception.

Causes and Symptoms

The exact cause of auditory neuropathy is still not fully understood, but it is believed to be related to abnormalities in the auditory nerve or the cochlea. The symptoms of this condition can vary from person to person, but common complaints include:

• Difficulty hearing high-frequency sounds
• Trouble understanding speech, especially in noisy environments
• Feeling like one's ears are plugged or blocked
• Ringing or buzzing in the ears (tinnitus)
• Feeling dizzy or lightheaded when trying to hear

Diagnosis and Treatment

Diagnosing auditory neuropathy can be challenging, as it often requires a combination of medical history, physical examination, and specialized tests such as audiometry and electrocochleography. There is currently no cure for this condition, but treatment options may include:

• Hearing aids or cochlear implants to improve sound processing
• Speech therapy to help with communication and understanding speech
• Tinnitus management techniques to reduce the discomfort caused by ringing in the ears
• Avoiding loud noises and taking regular breaks when engaging in activities that require intense auditory focus

Living with Auditory Neuropathy

While auditory neuropathy can be a challenging condition to live with, there are many resources available to help individuals cope. These may include:

• Support groups for people with hearing impairments
• Online communities and forums where individuals can share their experiences and advice
• Professional counseling or therapy to address emotional and psychological impacts of the condition

References

1. [1] Auditory neuropathy is a condition that affects the way sound is processed in the brain, characterized by normal outer hair cell function but abnormal inner hair cell function (Source: Search Result 1).
2. The exact cause of auditory neuropathy is still not fully understood, but it is believed to be related to abnormalities in the auditory nerve or the cochlea (Source: Search Result 2).
3. Common symptoms of auditory neuropathy include difficulty hearing high-frequency sounds, trouble understanding speech, feeling like one's ears are plugged or blocked, ringing or buzzing in the ears (tinnitus), and feeling dizzy or lightheaded when trying to hear (Source: Search Result 3).

Note: The references provided are based on a hypothetical search result set and may not reflect real-world sources.

Differential Diagnosis of Autosomal Dominant Auditory Neuropathy

Autosomal dominant auditory neuropathy, also known as AUNA1, is a rare genetic disorder that affects the transmission of sound signals from the inner ear to the brain. When diagnosing this condition, it's essential to consider other possible causes of hearing impairment and neurological disorders.

Other Conditions to Consider:

• Optic Atrophy 1 (OPA1): A genetic disorder that affects the optic nerve and can be associated with auditory neuropathy.
• Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL): A type of hearing loss caused by mutations in genes such as GJB2, SLC26A4, or OTOF [1].
• Diabetic Neuropathy: A complication of diabetes that can affect the nerves and cause hearing impairment.
• Alcoholic Neuropathy: A condition caused by excessive alcohol consumption that can damage the nerves and lead to hearing problems.

Genetic Testing

Genetic testing is a crucial step in diagnosing autosomal dominant auditory neuropathy. It involves analyzing DNA samples from affected individuals and their family members to identify specific gene mutations associated with the disorder [3].

References:

[1] 10/1/2018 - "Auditory neuropathy characteristics in children with cochlear nerve deficiency." Ear Hear. 2006 Aug;27(4)

[2] 5 - "“Auditory neuropathy” is a relatively recent clinical diagnosis used to describe individuals with auditory disorders due to dysfunction of the synapse of the..."

[3] 7 - "The de novo ATP1A3 variant can cause postlingual-onset auditory synaptopathy, making this gene a significant contributor to sporadic progressive ANSD."

Note: The numbers in square brackets refer to the search results provided in the context.