CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CANVAS
Number of Symptoms 26
OrphanetNr:
OMIM Id: 614575
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000640) Gaze-evoked nystagmus 27 / 7739
2
(HPO:0001151) Impaired horizontal smooth pursuit 7 / 7739
3
(HPO:0008568) Vestibular areflexia 5 / 7739
4
(HPO:0001251) Ataxia 413 / 7739
5
(HPO:0002070) Limb ataxia 41 / 7739
6
(HPO:0002066) Gait ataxia 327 / 7739
7
(HPO:0000763) Sensory neuropathy 78 / 7739
8
(HPO:0002403) Positive Romberg sign 11 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0001265) Hyporeflexia 208 / 7739
11
(HPO:0003677) Slow progression 134 / 7739
12
(OMIM) Saccadic movements 1 / 7739
13
(OMIM) Impaired vestibuloocular reflex (VOR) 1 / 7739
14
(OMIM) Impairment of compensatory eye movement reflexes 1 / 7739
15
(MedDRA:10052087) Oscillopsia 3 / 7739
16
(HPO:0001272) Cerebellar atrophy 197 / 7739
17
(OMIM) Imbalance 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Loss of cerebellar Purkinje cells 2 / 7739
20
(OMIM) Impaired visually enhanced vestibuloocular reflex (VVOR) 1 / 7739
21
(OMIM) Atrophy of vestibular nerves and ganglion cells (ascertained in 1 patient) 1 / 7739
22
(OMIM) Loss of vestibular reflexes 1 / 7739
23
(OMIM) Normal hearing 9 / 7739
24
(OMIM) Decreased or absent sensory nerve action potentials, upper and lower limbs 1 / 7739
25
(OMIM) Sural nerve biopsy shows axonal loss 2 / 7739
26
(OMIM) Sensory impairment, non length-dependent 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., ...
Clinical Description OMIM Migliaccio et al. (2004) reported 4 unrelated patients, 2 males and 2 females, with a syndrome comprising cerebellar ataxia and bilateral vestibulopathy with impaired ability of the eye velocity to match head velocity. All had a characteristic sign ...