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spinocerebellar ataxia type 26
ICD-10 Codes
Description
Spinocerebellar ataxia type 26 (SCA26) is a rare subtype of autosomal dominant cerebellar ataxia type III, characterized by late-onset and slowly
Additional Characteristics
- cerebellar ataxia
- autosomal dominant cerebellar ataxia
- late-onset
- spinocerebellar ataxia
Signs and Symptoms
Spinocerebellar ataxia type 26 (SCA26) is a rare subtype of autosomal dominant cerebellar ataxia type III, characterized by late-onset and slowly progressive cerebellar signs. The symptoms of SCA26 typically include:
- Gait ataxia: Progressive incoordination of gait, which can lead to an awkward or unsteady walk [2].
- Eye movement abnormalities: Many patients develop eye movement problems, including nystagmus (involuntary eye movements) [7].
- Dysarthria: Slowly progressive speech difficulties, which can result in slurred speech [1].
- Progressive ataxia: Gradual loss of coordination and balance, leading to impaired muscle control [8].
It's worth noting that the symptoms of SCA26 are similar to those of other spinocerebellar ataxias, but the age of onset is typically later, between 26-60 years old, with a mean age of onset of 42 years [1]. The progression of the disease can vary from person to person.
References: [1] - SCA26 onset occurs between the ages of 26-60 with a mean age of onset of 42 years. Slowly progressive gait ataxia and dysarthria were reported in all patients. [2] - Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. [7] - Clinically, patients develop progressive ataxia with pyramidal and brainstem signs, and many patients develop eye movement abnormalities including nystagmus, [8] - Early signs of ataxia often include impaired coordination and balance. The loss of muscle control can lead to slurred speech, an abnormal way of walking,
Additional Symptoms
- Gait ataxia
- Eye movement abnormalities (nystagmus)
- Dysarthria (slowly progressive speech difficulties)
- Progressive ataxia (gradual loss of coordination and balance)
Diagnostic Tests
Spinocerebellar ataxia type 26 (SCA26) is a rare subtype of autosomal dominant cerebellar ataxia type III, characterized by late-onset and slowly progressive cerebellar signs. Diagnostic tests for SCA26 are crucial for accurate diagnosis.
Available DNA Tests
According to [4], currently available DNA tests can define the genotypes of up to two-thirds of patients with dominantly inherited SCAs, including SCA26. These tests typically involve molecular genetics techniques such as microsatellite instability testing (MSI), targeted variant analysis, deletion/duplication analysis, and mutation scanning.
Specific Diagnostic Tests
The following diagnostic tests are specifically mentioned in the context:
- Microsatellite instability testing (MSI) [1]
- Targeted variant analysis [2]
- Deletion/duplication analysis [4]
- Mutation scanning of the EEF2 gene, which is associated with SCA26 [9]
Genetic Testing
Genetic testing for spinocerebellar ataxia, including SCA26, is used in diagnosis of rare movement disorders. Such testing generally does not affect treatment, but it can provide valuable information for patients and their families [5].
Additional Diagnostic Codes
The ICD-9 code 26.0 is associated with incision of salivary gland or duct, which may be relevant to SCA26, although the exact connection is unclear from the provided context.
In summary, diagnostic tests for spinocerebellar ataxia type 26 include DNA tests such as MSI, targeted variant analysis, deletion/duplication analysis, and mutation scanning of the EEF2 gene. These tests can provide valuable information for accurate diagnosis and management of SCA26.
References:
[1] Molecular Genetics Tests [2] Targeted variant analysis [4] by EK Tan · 2001 · Cited by 75 [5] by A Powell · 2010 · Cited by 29 [9] A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-26 (SCA26) is caused by heterozygous mutation in the EEF2 gene
Additional Diagnostic Tests
- Targeted variant analysis
- duplication analysis
- Microsatellite instability testing (MSI)
- Mutation scanning of the EEF2 gene
Treatment
Spinocerebellar ataxia type 26 (SCA26) is a rare and inherited disorder that affects the cerebellum, leading to progressive loss of coordination and balance. While there is no cure for SCA26, research has explored various treatment options to manage its symptoms.
Current Treatment Options
According to available information [2], there is no specific treatment for SCA26, and management is primarily supportive. Neurological follow-up is recommended to monitor the progression of ataxia. Patients are advised to consult with a healthcare professional for medical advice and treatment [3].
Experimental Treatments
Research has investigated the potential benefits of certain medications in treating SCA26 symptoms. For instance, riluzole, a drug used to treat amyotrophic lateral sclerosis (ALS), showed promise in improving cerebellar symptoms in patients with various types of degenerative ataxia, including SCA26 [1]. However, more studies are needed to confirm its efficacy.
Additionally, topiramate, a potassium channel activator, has been studied in an open pilot trial for its potential benefits in treating spinocerebellar ataxias (SCAs), including SCA26 [6]. While results were promising, further research is required to establish its effectiveness.
Other Medications
Medications like troriluzole have shown a 50-70% slowing of disease progression in SCA patients, representing a 1.5-2.2 years delay in disease progression over the 3-year study period [7]. However, more research is needed to confirm its efficacy and potential side effects.
It's essential to note that there are currently no FDA-approved treatments for ataxia or SCA26 specifically [5].
Conclusion
While treatment options for SCA26 are limited, ongoing research explores the potential benefits of various medications in managing symptoms. Patients with SCA26 should consult with a healthcare professional for personalized advice and care.
References:
[1] SD Ghanekar (2022) - Cited by 28 [2] Management and treatment. [3] Please consult with a healthcare professional for medical advice and treatment. [5] by SL Perlman (2020) - Cited by 20 [6] by S Miura (2023) [7] SCA patients treated with troriluzole showed a 50-70% slowing of disease progression, representing 1.5-2.2 years delay in disease progression over the 3-year study period. [8] by M Naveed (2024) - Cited by 9
Recommended Medications
- troriluzole
- Riluzole
- topiramate
💊 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
Spin
Additional Differential Diagnoses
- Vertigo
- Seizure
Additional Information
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