Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Orpha code: 504476OMIM code: 614575

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
Kod ORPHA
504476
Kod OMIM
614575
Kod ICD10
G11.2
Kod ICD11
-

No additional description.

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