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spinocerebellar ataxia with axonal neuropathy 2
ICD-10 Codes
Description
Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare neurodegenerative disorder characterized by progressive cerebellar ataxia, associated with peripheral sensorimotor axonal neuropathy. The condition typically manifests in adolescence, with the age of onset ranging between 10 and 25 years, and has a mean age of 14-15 years.
Clinical Features:
- Progressive cerebellar ataxia
- Peripheral sensorimotor axonal neuropathy
- Oculomotor apraxia is a common but inconsistent finding
Prevalence: The prevalence of SCAN2 in France is estimated to be 1/900,000.
Age of Onset: SCAN2 typically affects individuals between the ages of 10 and 25 years, with a mean age of onset of 14-15 years.
Symptoms:
- Poor coordination and balance (ataxia)
- Oculomotor apraxia
- Sensorimotor neuropathy
Note that SCAN2 is a rare condition, and its symptoms may vary from person to person. The information provided above is based on the available clinical resources and research studies [4][6].
References: [1] - Cerebellar ataxia and areflexia of late childhood (13 – 15 years)-onset followed by signs of peripheral neuropathy. [2] - Autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 is a neurodegenerative disorder characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein (AFP; 104150). [4] - The prevalence of spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) in France is estimated to be 1/900,000. [6] - Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia and distal sensorimotor axonal neuropathy.
Additional Characteristics
- Progressive cerebellar ataxia
- Peripheral sensorimotor axonal neuropathy
- Oculomotor apraxia is a common but inconsistent finding
- Poor coordination and balance (ataxia)
- Sensorimotor neuropathy
Signs and Symptoms
Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare neurodegenerative disorder characterized by progressive cerebellar ataxia, peripheral neuropathy, and other symptoms. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom [4]. Most affected people also have oculomotor apraxia, which is an inability to coordinate eye movements [3].
Other common signs and symptoms of SCAN2 include:
- Progressive cerebellar atrophy
- Sensorimotor peripheral neuropathy
- Increased serum alpha-fetoprotein (AFP)
- Oculomotor apraxia in about 50% of patients [3]
- Painful disabling muscle cramps, affecting the lower limbs in 88% of patients [5]
Additionally, some individuals with SCAN2 may experience weakness and atrophy of distal limb muscles, areflexia, and loss of pain, vibration, and touch sensations in upper limbs [6]. It's essential to note that each person's symptoms can vary in severity and progression.
It's worth mentioning that SCAN2 is a rare condition, and its symptoms can be similar to those of other neurodegenerative disorders. A proper diagnosis by a healthcare professional is necessary for an accurate understanding of the condition and its impact on daily life.
Diagnostic Tests
Based on the search results, it appears that diagnostic tests for spinocerebellar ataxia with axonal neuropathy 2 (SCA2) are primarily focused on molecular genetic testing.
- DNA-based testing: This is a key feature in diagnosing SCA2, as mentioned in [4] and [6]. DNA tests involve analysis of the CAG trinucleotide repeat expansion to confirm the diagnosis and determine the severity of the disease.
- Nerve biopsy: While not specifically mentioned in the search results, nerve biopsies can be used to diagnose axonal loss, which is a characteristic feature of SCA2 [2].
- Blood tests: Blood tests can also be used to diagnose SCA2. Specifically, decreased serum concentration of albumin and increased serum concentration of cholesterol have been observed in patients with this condition [2].
It's worth noting that the diagnosis of SCA2 typically involves a combination of clinical features, progressive evolution leading to important motor handicap, absence of extra-neurologic findings, and family history [1]. However, DNA-based testing is a crucial tool in confirming the diagnosis.
References:
[1] Context result 1 [2] Context result 2 [4] Context result 4 [6] Context result 6
Additional Diagnostic Tests
- Blood tests
- DNA-based testing
- Nerve biopsy
Treatment
Spinocerebellar ataxia with axonal neurop
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Differential Diagnosis
Differential Diagnosis of Spinocerebellar Ataxia with Axonal Neuropathy 2
Spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is a rare neurodegenerative disorder characterized by progressive cerebellar ataxia and distal axonal neuropathy. When diagnosing SCAN2, it's essential to consider the differential diagnoses that can mimic its symptoms.
Differential Diagnoses:
- Early-onset cerebellar ataxias with sensory axonal neuropathy: These conditions share similar clinical features with SCAN2, including progressive cerebellar ataxia and distal axonal neuropathy.
- Epileptic encephalopathy: This condition can present with seizures, developmental delay, and progressive neurological deterioration, which may be mistaken for SCAN2.
- Mitochondrial disorders with axonal neuropathy: Mitochondrial diseases can cause a range of symptoms, including progressive cerebellar ataxia, distal axonal neuropathy, and other systemic features.
Key Diagnostic Features:
To differentiate SCAN2 from these conditions, clinicians should look for specific diagnostic features:
- Age of onset: SCAN2 typically presents in late childhood or early adulthood.
- Progression rate: The progression rate of cerebellar ataxia and distal axonal neuropathy can vary among individuals with SCAN2.
- Neurological examination: A thorough neurological examination can help identify specific features, such as nystagmus, dysarthria, or weakness.
References:
- [1] - Context 4
- [3] - Context 3
- [5] - Context 5
Additional Differential Diagnoses
- autosomal recessive spinocerebellar ataxia 2
- Epileptic encephalopathy
- Early-onset cerebellar ataxias with sensory axonal neuropathy
- Mitochondrial disorders with axonal neuropathy
Additional Information
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- spinocerebellar ataxia with axonal neuropathy 2
- IAO_0000115
- An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.
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