Spinocerebellar ataxia type 21

General Information (adopted from Orphanet):

Synonyms, Signs: SCA21
Number of Symptoms 26
OrphanetNr: 98773
OMIM Id: 607454
ICD-10: G11
UMLs: C1843891
MeSH: C537200
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant cerebellar ataxia type 1
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000514) Slow saccadic eye movements 21 / 7739
2
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
 (HPO:0007792) Microsaccadic pursuit 1 / 7739
4
 (HPO:0002073) Progressive cerebellar ataxia 27 / 7739
5
 (HPO:0002174) Postural tremor 22 / 7739
6
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
7
 (HPO:0010526) Dysgraphia 3 / 7739
8
 (HPO:0002168) Scanning speech 10 / 7739
9
 (HPO:0001265) Hyporeflexia 208 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0002396) Cogwheel rigidity 6 / 7739
12
 (HPO:0100543) Cognitive impairment 230 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0001300) Parkinsonism 75 / 7739
15
 (HPO:0000718) Aggressive behavior 109 / 7739
16
 (HPO:0002066) Gait ataxia 327 / 7739
17
 (HPO:0002304) Akinesia 18 / 7739
18
 (HPO:0002070) Limb ataxia 41 / 7739
19
 (HPO:0100710) Impulsivity 16 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0000741) Apathy 42 / 7739
22
 (OMIM) Square wave jerks 1 / 7739
23
 (OMIM) Pill rolling tremor 1 / 7739
24
 (HPO:0001272) Cerebellar atrophy 197 / 7739
25
 (HPO:0003677) Slow progression 134 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: