Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Synonyms: CABV syndrome | CANVAS | Cerebellar ataxia with bilateral vestibulopathy syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome?

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Advocacy Organizations

Ducks For Dementia

Ducks For Dementia, founded on the profound compassion and vision of a young boy named David, aims to bring solace and understanding to individuals with dementia and their families. Our mission is rooted in the distribution of toy ducks as symbols of comfort, which serve not only as therapeutic aids but also as beacons of joy and companionship for those navigating the complexities of dementia.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

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