Spinocerebellar ataxia type 10
Synonyms: SCA10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 10 | SCA10 |
| fr | Ataxie spinocérébelleuse type 10 | = en |
| de | Ataxie, spinozerebelläre, Typ 10 | = en |
| es | Ataxia espinocerebelosa tipo 10 | = en |
| it | Atassia spinocerebellare, tipo 10 | = en |
| nl | Spinocerebellaire ataxie type 10 | = en |
| pt | Ataxia espinocerebelosa tipo 10 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 10 | = en |
| cs | Spinocerebelární ataxie, typ 10 | = en |
| uk | Спіноцеребеллярна атаксія, тип 10 | = en |
| zh | 脊髓小脑共济失调10型 | = en |
| tr | Spinoserebellar ataksi tip 10 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603516 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011330 | E | validated | |
| MeSH | C566874 | E | validated | |
| UMLS | C1963674 | E | validated | |
| GARD | 10474 | 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 (1):
- ORPHA:94149Autosomal dominant cerebellar ataxia type IV
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN10 | Disease-causing germline mutation(s) in | Assessed | HGNC:10549 | ENSG00000130638 | 611150 | 22q13.31 | ataxin 10 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
30 annotations · validated 2018-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0100660 | Dyskinesia | |
| HP:0001310 | Dysmetria | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0002141 | Gait imbalance | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0002080 | Intention tremor | |
| HP:0030186 | Kinetic tremor | |
| HP:0000639 | Nystagmus | |
| HP:0002168 | Scanning speech | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000741 | Apathy | |
| HP:0003487 | Babinski sign | |
| HP:0000716 | Depression | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002360 | Sleep abnormality | |
| HP:0002133 | Status epilepticus | |
| HP:0000012 | Urinary urgency | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 11506407[PMID]_12164725[PMID]_17620556[PMID]_29624773[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98761
- This record as JSON: /data/d/98761.json