CANVAS
Cerebellum and brainstem
Specialty	Neurology
Symptoms	Difficulty walking. Poor coordination. Decreased sensation. Chronic cough. Dysphagia.
Usual onset	40–60 years old
Duration	Long term
Causes	Genetic (inherited or new mutation)
Diagnostic method	The diagnosis is clinical whereby there is a sensory neuropathy with cerebellar dysfunction, or a sensory neuropathy with a family history of similar signs and symptoms. If there is clinical suspicion, then RFC1 genetic testing should be performed.
Prevention	Genetic counselling
Treatment	There is no treatment therefore supportive care is the mainstay of management. Genetic counselling should be provided before the gene is tested for however and the implications this may have on family planning.
Medication	Not available
Frequency	Unknown

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo–ocular reflex. The syndrome was initially described in 2004. ^[1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the RFC1 gene. ^{[2] [3]}

Signs and symptoms

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Diagnosis

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Treatment

Specific treatment is lacking. A multidisciplinary approach to supportive care is recommended.^{[ citation needed]}

Prognosis

The progression is typically slow, with 55% of patients needing mobility aids 10 years after onset, and 25% needing a wheelchair after 15 years. ^[4]

Epidemiology

The prevalence of the disease is currently unknown, largely owing to its recent description and delineation from other forms of autosomal recessive cerebellar ataxia.^{[ citation needed]}

References