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Up to: Hereditary otorhinolaryngologic disease · Autosomal recessive syndromic cerebellar ataxia · Hereditary sensory and autonomic neuropathy type 1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, 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.
This condition has no sub-types.