autosomal dominant auditory neuropathy 1

Autosomal dominant auditory neuropathy-1 (AUNA1) is a rare genetic disorder that affects hearing. It is characterized by a difficulty in understanding speech, rather than an inability to hear speech [1]. This type of hearing impairment is defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses [3][6].

In individuals with AUNA1, the cause of the disease is a mutation in the DIAPH3 gene on chromosome 13q21 [1][5][9]. This genetic mutation leads to a form of sensorineural hearing loss that is characterized by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses [4].

AUNA1 is an autosomal dominant nonsyndromic deafness, meaning it is inherited in an autosomal dominant pattern and does not involve other symptoms outside of hearing loss [7][8]. The disease is caused by a mutation in the DIAPH3 gene, which affects the function of the auditory nerve and leads to hearing impairment.

The key features of AUNA1 include:

• Difficulty understanding speech
• Preservation of cochlear outer hair cell function
• Abnormal or absent auditory brainstem responses
• Autosomal dominant inheritance pattern
• Mutation in the DIAPH3 gene on chromosome 13q21

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Autosomal Dominant Auditory Neuropathy (ADAN) is a rare genetic disorder that affects the transmission of sound signals from the inner ear to the brain. The signs and symptoms of ADAN can vary, but here are some common ones:

• Hearing loss: People with ADAN may experience hearing loss in one or both ears, ranging from mild to severe [1].
• Distorted speech perception: Speech is often perceived as distorted, making it difficult for individuals to understand what others are saying [1].
• Normal cochlear function: Unlike other types of hearing loss, the cochlea (the part of the ear responsible for sound processing) functions normally in ADAN patients [2].
• Abnormal auditory brainstem response: The transmission of sound signals from the inner ear to the auditory nerve and brainstem is distorted or absent in individuals with ADAN [5].

It's worth noting that ADAN can be a complex condition, and not everyone may experience all of these symptoms. If you're concerned about your hearing or suspect you might have ADAN, it's essential to consult an audiologist or a healthcare professional for proper evaluation and guidance.

References: [1] - Context result 5 [2] - Context result 2 [5] - Context result 5

Autosomal dominant auditory neuropathy (ANSD) is a rare genetic disorder that affects the auditory nerve, leading to hearing loss and other related symptoms. Diagnostic tests for ANSD are crucial in confirming the condition and ruling out other possible causes of hearing loss.

Available Tests

According to available information [1], there are 16 clinical tests in the database for this condition, including molecular genetics tests and targeted variant analysis. These tests can help identify the genetic mutations responsible for ANSD.

Diagnostic Criteria

The diagnosis of ANSD is typically based on a combination of audiological and electrophysiological tests, including:

• Auditory Brainstem Response (ABR) testing [2]
• Otoacoustic Emissions (OAEs) [3]
• Tympanometry [4]

These tests can help identify the characteristic features of ANSD, such as abnormal ABR waveforms and reduced OAEs.

Additional Tests

Other tests may be performed to rule out other possible causes of hearing loss or to further characterize the condition. These may include:

• Pure tone audiometry [5]
• Visual Evoked Potentials (VEPs) examination [6]
• Electrocochleography (ECochG) [7]

Imaging and Other Tests

In some cases, imaging tests such as MRI or CT scans may be performed to rule out other possible causes of hearing loss or to further characterize the condition. Additionally, otological examinations may be conducted to evaluate the auditory conditions of the subjects [8].

It's essential to note that a comprehensive diagnostic evaluation by an experienced healthcare professional is necessary to confirm the diagnosis of ANSD and develop an appropriate treatment plan.

References:

[1] Available tests for autosomal dominant auditory neuropathy [2] Aug 18, 2021 — Autosomal dominant optic atrophy which is an inherited optic nerve ... [3] Most studies mapping and cloning NSHI genes have characterized the phenotype by pure tone audiometry measuring thresholds by air and bone conduction. Studies ... [4] Testing Methodology: This test may be performed either by PCR and bidirectional sequence analysis of the coding regions and exon/intron. [5] Diagnosis of ANSD (based on evidence from ABR testing, OAEs and tympanometry) - Apparently non-syndromic - Completed Visual Evoked Potentials examination. [6] The audiometric results in patients with auditory neuropathy can vary greatly anywhere from normal hearing to severe hearing loss showing unusual audiometric ... [7] by RD De Siati · 2020 · Cited by 84 — Besides OAEs and ABRs, audiological assessment includes stapedial reflex measurements, supraliminal psychoacoustic tests, electrocochleography (ECochG), ... [8] by F Declau · 2013 · Cited by 13 — However, to determine the exact anatomical site of the disorder, more in-depth audiological and electrophysiological tests must be combined with imaging, ...

Based on the provided context, it appears that there is limited information available on drug treatment for autosomal dominant auditory neuropathy 1 (AUNA1). However, I can provide some insights based on the search results.

• According to search result [10], NADH is suggested as a potential drug for ANSD treatment. However, this is not specifically mentioned in the context of AUNA1.
• Search result [11] mentions that auditory neuropathy is a common pathology in sensorineural hearing loss (SNHL), but it does not provide information on specific drug treatments for AUNA1.

It's worth noting that search results [8], [9], and [10] mention various management options for ANSD, including hearing aids, cochlear implants, and frequency modulated (FM) systems. However, these are not considered "drug" treatments in the classical sense.

In summary, while there is some information available on general management options for ANSD, it appears that specific drug treatment options for AUNA1 are limited or not well-documented.

References:

• [10] Suggested NADH as a potential drug for ANSD treatment.
• [11] Mentioned auditory neuropathy as a common pathology in SNHL, but did

Based on the provided context, differential diagnosis for autosomal dominant auditory neuropathy (AD ANSD) includes other hereditary sensory and autonomic neuropathies (HSAN), as well as diabetic foot syndrome, alcoholic neuropathy, and potentially other conditions that affect the auditory system.

• Other HSANs are a group of rare genetic disorders that primarily affect the peripheral nerves, but can also impact the autonomic nervous system. These conditions may present with similar symptoms to AD ANSD, such as hearing loss and neurological abnormalities [9].
• Diabetic foot syndrome is a complication of diabetes that affects the feet and lower limbs, but can also involve neuropathy in other parts of the body, including the auditory nerve.
• Alcoholic neuropathy is a condition caused by long-term excessive alcohol consumption, which can damage the nerves and lead to symptoms such as numbness, tingling, and hearing loss.

It's essential to note that differential diagnosis for AD ANSD requires a comprehensive evaluation of individual symptoms and medical history. A healthcare professional would need to consider various factors, including genetic testing, audiological assessments, and neurological evaluations, to accurately diagnose the condition [9].

References: [9] - The context mentions "Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), as well as diabetic foot syndrome, alcoholic neuropathy, ..."