Autosomal dominant cerebellar ataxia
Synonyms: ADCA · Autosomal dominant spinocerebellar ataxia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant cerebellar ataxia | ADCA · Autosomal dominant spinocerebellar ataxia |
| fr | Ataxie cérébelleuse autosomique dominante | Ataxie spinocérébelleuse |
| de | Zerebelläre Ataxie, autosomal-dominante | ADCA · Kleinhirnataxie · Spinozerebelläre Ataxie |
| es | Ataxia cerebelosa autosómica dominante | Ataxia espinocerebelosa autosómica dominante |
| it | Atassia cerebellare, autosomica dominante | Atassia spinocerebellare |
| nl | Autosomale dominante cerebellaire ataxie | ADCA · Autosomale dominante spinocerebellaire ataxie |
| pt | Ataxia cerebelosa autossómica dominante | ADCA · Ataxia espinocerebelosa |
| pl | Autosomalnie dominująca ataksja móżdżkowa | ADCA · Autosomalnie dominująca ataksja rdzeniowo-móżdżkowa |
| cs | Autozomálně dominantní cerebelární ataxie | ADCA · ADSCA · Autozomálně dominantní spinocerebelární ataxie |
| uk | Аутосомно-домінантна мозочкова атаксія | ADCA · Аутосомно-домінантна спіноцеребеллярна атаксія |
| zh | 常染色体显性遗传小脑型共济失调 | 常染色体显性遗传脊髓小脑共济失调 |
| tr | Otozomal dominant serebellar ataksi | ADCA · Otozomal dominant spinoserebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0020380 | E | validated | |
| UMLS | C4087347 | E | validated | |
| GARD | 4346 | 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 (2):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98540Late-onset ataxia with dementia
rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:98068OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly referred to · inactive
- ORPHA:98069OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy referred to · inactive
- ORPHA:98070OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine referred to · inactive
- ORPHA:98071OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation referred to · inactive
- ORPHA:98073OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.7 / 100 000 | Worldwide | Value and class | Validated | 24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | Netherlands | Value and class | Validated | 11889231[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.9 / 100 000 | Italy | Value and class | Validated | 7793232[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.6 / 100 000 | Portugal | Value and class | Validated | 23609960[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.6 / 100 000 | Europe | Value and class | Validated | 23609960[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.6 / 100 000 | Japan | Value and class | Validated | 19169038[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99
- This record as JSON: /data/d/99.json