Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Engelsk navn: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Engelske synonym: CABV syndrome,CANVAS,Cerebellar ataxia with bilateral vestibulopathy syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 504476
Klassifiseringsnivå: Disorder
ICD-10: G11.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
