ORPHA:101110
Spinocerebellar ataxia type 20
Synonyms: SCA20
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 20 | SCA20 |
| fr | Ataxie spinocérébelleuse type 20 | = en |
| de | Ataxie, spinozerebelläre, Typ 20 | = en |
| es | Ataxia espinocerebolosa tipo 20 | = en |
| it | Atassia spinocerebellare, tipo 20 | = en |
| nl | Spinocerebellaire ataxie type 20 | = en |
| pt | Ataxia espinocerebelosa tipo 20 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 20 | = en |
| cs | Spinocerebelární ataxie, typ 20 | = en |
| uk | Спіноцеребеллярна атаксія, тип 20 | = en |
| zh | 脊髓小脑共济失调20型 | = en |
| tr | Spinoserebellar ataksi tip 20 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608687 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012098 | E | validated | |
| MeSH | C537199 | E | validated | |
| UMLS | C1837541 | E | validated | |
| GARD | 9997 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCA20 | Disease-causing germline mutation(s) in | Assessed | HGNC:17204 | 11q12 | spinocerebellar ataxia 20 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
19 annotations · validated 2018-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| Frequent (79-30%) | ||
| HP:0002067 | Bradykinesia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0001618 | Dysphonia | |
| HP:0007338 | Hypermetric saccades | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0030188 | Tremor by anatomical site | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001251 | Ataxia | |
| HP:0010545 | Downbeat nystagmus | |
| HP:0002066 | Gait ataxia | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001347 | Hyperreflexia | |
| HP:0030185 | Isometric tremor | |
| HP:0030186 | Kinetic tremor | |
| HP:0007351 | Upper limb postural tremor | |
| HP:0002321 | Vertigo | |
| Very rare (<4-1%) | ||
| HP:0002080 | Intention tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 14998916[PMID]_20301644[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101110
- This record as JSON: /data/d/101110.json