ORPHA:423275
Spinocerebellar ataxia type 40
Synonyms: SCA40
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 40 | SCA40 |
| fr | Ataxie spinocérébelleuse type 40 | = en |
| de | Ataxie, spinozerebelläre, Typ 40 | = en |
| es | Ataxia espinocerebelosa tipo 40 | = en |
| it | Atassia spinocerebellare, tipo 40 | = en |
| nl | Spinocerebellaire ataxie type 40 | = en |
| pt | Ataxia espinocerebelosa tipo 40 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 40 | = en |
| cs | Spinocerebelární ataxie, typ 40 | = en |
| uk | Спіноцеребеллярна атаксія, тип 40 | = en |
| zh | 脊髓小脑共济失调40型 | = en |
| tr | Spinoserebellar ataksi tip 40 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616053 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 0014475 | E | validated | |
| UMLS | C4518336 | E | validated | |
| GARD | 12371 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC88C | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:19967 | ENSG00000015133 | 611204 | 14q32.11-q32.12 | coiled-coil and HOOK domain protein 88C | 25062847[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25062847[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25062847[PMID] |
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
14 annotations · validated 2018-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002136 | Broad-based gait | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0004302 | Functional motor deficit | |
| HP:0002066 | Gait ataxia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002080 | Intention tremor | |
| HP:0006879 | Pontocerebellar atrophy | |
| HP:0002168 | Scanning speech | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002317 | Unsteady gait | |
| HP:0000511 | Vertical supranuclear gaze palsy | |
Annotation source: 25062847[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423275
- This record as JSON: /data/d/423275.json