Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Name: |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
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Description: |
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
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ORPHAcode: |
504476
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Synonyms: |
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
04 Feb 2020 - 15:13
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Changed: |
22 Jun 2023 - 16:14
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