Spinocerebellar ataxia type 5

General Information (adopted from Orphanet):

Synonyms, Signs: SCA5
Number of Symptoms 28
OrphanetNr: 98766
OMIM Id: 600224
ICD-10: G11
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
Elderly
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 3
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000317) Facial myokymia 5 / 7739
2
 (HPO:0007772) Impaired smooth pursuit 21 / 7739
3
 (HPO:0000640) Gaze-evoked nystagmus 27 / 7739
4
 (HPO:0010545) Downbeat nystagmus 2 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0002311) Incoordination 84 / 7739
7
 (HPO:0001347) Hyperreflexia 363 / 7739
8
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
9
 (HPO:0002070) Limb ataxia 41 / 7739
10
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
11
 (HPO:0002080) Intention tremor 44 / 7739
12
 (HPO:0002495) Impaired vibratory sensation 26 / 7739
13
 (HPO:0002066) Gait ataxia 327 / 7739
14
 (HPO:0001310) Dysmetria 76 / 7739
15
 (HPO:0001251) Ataxia 413 / 7739
16
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0010547) Muscle flaccidity 466 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Stance ataxia 1 / 7739
23
 (HPO:0001272) Cerebellar atrophy 197 / 7739
24
 (HPO:0003677) Slow progression 134 / 7739
25
 (OMIM) Facial myokymia, mild 1 / 7739
26
 (OMIM) Cognitive impairment, mild 15 / 7739
27
 (OMIM) Bulbar dysfunction 4 / 7739
28
 (HPO:0003593) Infantile onset rare [HPO:skoehler] 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (164400).
Clinical Description OMIM Ranum et al. (1994) examined a large kindred in which 56 of 170 individuals distributed over 10 generations were affected by a dominant ataxia that was clinically and genetically distinct from those previously mapped. The family had 2 ...
Molecular genetics OMIM In affected individuals from an 11-generation American kindred descended from President Lincoln's grandparents whose spinocerebellar ataxia mapped to chromosome 11q13, as well as in 2 additional families, Ikeda et al. (2006) found mutations in the SPTBN2 gene (604985.0001-604985.0003). ...