Autosomal recessive cerebellar ataxia
Synonyms: ARCA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital ataxias, ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias and ataxias associated with other features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia | ARCA |
| fr | Ataxie cérébelleuse autosomique récessive | = en |
| de | Zerebelläre Ataxie, autosomal-rezessive | = en |
| es | Ataxia cerebelosa autosómica recesiva | |
| it | Atassia cerebellare, autosomica recessiva | = en |
| nl | Autosomaal recessieve cerebellaire ataxie | = en |
| pt | Ataxia cerebelosa autossómica recessiva | ACAR |
| pl | Autosomalna recesywna ataksja móżdżkowa | = en |
| cs | Autozomálně recesivní cerebelární ataxie | = en |
| uk | Аутосомно-рецесивна мозочкова атаксія | = en |
| zh | 常染色体隐性小脑共济失调 | = en |
| tr | Otozomal resesif serebellar ataksi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015244 | E | validated | |
| MONDO | 15244 | E | validated | |
| UMLS | C5575375 | 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:98539Early-onset ataxia with dementia
rare genetic diseases; rare neurological diseases - ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases
Children (13):
- ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency
- ORPHA:88644Autosomal recessive ataxia, Beauce type
- ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
- ORPHA:404481Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- ORPHA:98095Autosomal recessive congenital cerebellar ataxia
- ORPHA:98098Autosomal recessive degenerative and progressive cerebellar ataxia
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
- ORPHA:98099Autosomal recessive syndromic cerebellar ataxia
- ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- ORPHA:284332Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Portugal | Value and class | Validated | 23609960[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Worldwide | Value and class | Validated | 24603320[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.3 / 100 000 | France | Value and class | Validated | 19440741[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.3 / 100 000 | Norway | Value and class | Validated | 19339254[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.6 / 100 000 | Europe | Value and class | Validated | 19440741[PMID]_19339254[PMID]_23609960[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/1172
- This record as JSON: /data/d/1172.json