Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA, INFANTILE NONPROGRESSIVE, AUTOSOMAL RECESSIVE
NORWEGIAN INFANTILE ONSET ATAXIA
SCAR6
Autosomal recessive spinocerebellar ataxia type 6
Number of Symptoms 21
OrphanetNr: 284332
OMIM Id: 608029
ICD-10: G11.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002312) Clumsiness 28 / 7739
2
 (HPO:0000750) Delayed speech and language development 197 / 7739
3
 (HPO:0001310) Dysmetria 76 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0002080) Intention tremor 44 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0001270) Motor delay 322 / 7739
10
 (HPO:0001763) Pes planus 176 / 7739
11
 (HPO:0004322) Short stature 1232 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
 (HPO:0001272) Cerebellar atrophy 197 / 7739
17
 (HPO:0003680) Nonprogressive disorder 23 / 7739
18
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
19
 (HPO:0003577) Congenital onset 133 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Spasticity may occur 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kvistad et al. (1985) reported an extensively inbred Norwegian family in which 7 individuals had a nonprogressive cerebellar ataxia with onset in infancy. There was a uniform clinical picture with delayed walking, hypotonia, clumsy movements, and slow speech ...