Spinocerebellar ataxia type 2
Synonyms: SCA2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 2 | SCA2 |
| fr | Ataxie spinocérébelleuse type 2 | = en |
| de | Ataxie, spinozerebelläre, Typ 2 | = en |
| es | Ataxia espinocerebelosa tipo 2 | = en |
| it | Atassia spinocerebellare, tipo 2 | = en |
| nl | Spinocerebellaire ataxie type 2 | = en |
| pt | Ataxia espinocerebelosa tipo 2 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 2 | = en |
| cs | Spinocerebelární ataxie, typ 2 | = en |
| uk | Спіноцеребеллярна атаксія, тип 2 | = en |
| zh | 脊髓小脑共济失调2型 | = en |
| tr | Spinoserebellar ataksi tip 2 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183090 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0008458 | E | validated | |
| UMLS | C0752121 | E | validated | |
| GARD | 4072 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10555 | ENSG00000204842 | 601517 | 12q24.12 | ataxin 2 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2018-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0045007 | Abnormality of the substantia nigra | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0025461 | Abnormal cell morphology | |
| HP:0003133 | Abnormality of the spinocerebellar tracts | |
| HP:0012082 | Cerebellar Purkinje layer atrophy | |
| HP:0002072 | Chorea | |
| HP:0000726 | Dementia | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0002380 | Fasciculations | |
| HP:0002066 | Gait ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001265 | Hyporeflexia | |
| HP:0030186 | Kinetic tremor | |
| HP:0003394 | Muscle spasm | |
| HP:0000639 | Nystagmus | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0002174 | Postural tremor | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0008311 | Spinal cord posterior columns myelin loss | |
| HP:0000623 | Supranuclear ophthalmoplegia | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0001300 | Parkinsonism | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301452[PMID]_2392220[PMID]_20301452[PMID]_9106530[PMID]_9158145[PMID]_2809629[PMID]_12847080[PMID]_2809629[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98756
- This record as JSON: /data/d/98756.json