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autosomal dominant cerebellar ataxia, deafness and narcolepsy
ICD-10 Codes
Description
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a rare progressive genetic disorder that primarily affects the nervous system. The clinical features of this condition include:
- Cerebellar ataxia: difficulty coordinating movements, which can lead to problems with balance, walking, and other motor functions [1][2]
- Narcolepsy with cataplexy: excessive daytime sleepiness, sudden attacks of sleep, and muscle weakness or paralysis triggered by emotions such as laughter or excitement [3][4]
- Sensorineural deafness: mild to moderate hearing loss caused by abnormalities of the inner ear [5][6]
Additionally, people with ADCADN may also experience executive dysfunction and global dementia, which can affect their cognitive abilities and daily functioning [2].
It's worth noting that ADCADN is a polymorphic disorder, meaning that it can manifest differently in different individuals, even within the same family [3]. The symptoms of this condition typically begin to appear in adulthood, around 30-40 years old [4][7].
References:
[1] Jul 1, 2017 — People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear (...)
[2] The clinical features include cerebellar ataxia, narcolepsy with cataplexy, sensorineural deafness and dementia including executive dysfunction and global ...
[3] Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type ...
[4] Jul 1, 2017 — People with ADCADN have difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear (...)
[5] by LAS Walker · 2017 · Cited by 7 — Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS ...
[6] Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a rare progressive genetic disorder that primarily affects the nervous system.
[7] by J Winkelmann · 2012 · Cited by 274 — Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30–40 years old) cerebellar ataxia, sensory neuronal ...
Additional Characteristics
- Narcolepsy with cataplexy
- Cerebellar ataxia
- Sensorineural deafness
- Executive dysfunction
- Global dementia
Signs and Symptoms
Autosomal dominant
Additional Symptoms
- Hypotonia
- Polydactyly
- Intellectual disability
- Synophrys
- High-arched palate
Diagnostic Tests
Based on the search results, it appears that diagnostic tests for autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) are primarily focused on molecular genetic testing.
- Molecular Genetics Tests: The search results mention a 257 gene panel that includes assessment of non-coding variants, as well as the maternally inherited mitochondrial genome [8]. This suggests that genetic testing is a crucial diagnostic tool for ADCADN.
- Clinical tests: There are 36 clinical tests available in the database for this condition, which may include various neurological and audiological assessments to confirm the presence of ataxia and hearing loss [3].
It's worth noting that diagnosis is also based on characteristic clinical findings, such as difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear [1][7]. However, molecular genetic testing is a key component in confirming the diagnosis of ADCADN.
In terms of specific diagnostic tests, it's not clear from the search results what exactly these 36 clinical tests entail. However, it's likely that they include a range of neurological and audiological assessments to confirm the presence of ataxia and hearing loss.
References: [1] Difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear. [3] Clinical tests (36 available). [7] Difficulty coordinating movements (ataxia) and mild to moderate hearing loss caused by abnormalities of the inner ear. [8] A 257 gene panel that includes assessment of non-coding variants.
Additional Diagnostic Tests
- Molecular Genetics Tests
- 257 gene panel
- maternally inherited mitochondrial genome
- 36 clinical tests
- neurological and audiological assessments
Treatment
Based on the search results, it appears that medication is a common treatment approach for autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). However, specific drug treatments are not well-defined in the provided context.
Medication as a primary treatment method: According to search result [7], "Most medications target excessive daytime sleepiness" in treating narcolepsy, which is one of the symptoms of ADCADN. This suggests that medication may be used to manage some aspects of the condition.
Limited information on specific treatments: Unfortunately, there is limited information available in the provided context regarding specific drug treatments for ADCADN. Search results [3] and [13] mention the DNMT1 gene mutation associated with ADCADN, but do not provide details on treatment options.
Clinical trials and research needed: Given the rarity of ADCADN, it's possible that there is limited research and clinical trial data available on effective drug treatments for this condition. Search result [6] mentions clinical trials as a way to determine the effectiveness and safety of new tests or treatments, but does not provide specific information on ADCADN.
Current treatment options: Based on the provided context, it appears that medication may be used to manage some symptoms of ADCADN, such as excessive daytime sleepiness. However, specific drug treatments for this condition are not well-defined and likely require further research and clinical trials.
References:
- [7] What medications or treatments are used to treat narcolepsy? Medication is the main method for treating narcolepsy.
- [3] Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) DNA methyltransferase-1 DNMT1 gene
- [13] Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) DNA methyltransferase-1 DNMT1 gene
Recommended Medications
- Most medications target excessive daytime sleepiness
- Limited information available regarding specific drug treatments for ADCADN
- Medication may be used to manage some symptoms of ADCADN, such as excessive daytime sleepiness
💊 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
The differential diagnosis for autosomal dominant
Additional Differential Diagnoses
Additional Information
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