Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 6 · SCAR6
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | Autosomal recessive spinocerebellar ataxia type 6 · SCAR6 |
| fr | Ataxie cérébelleuse autosomique récessive non progressive infantile | Ataxie spinocérébelleuse autosomique récessive type 6 · SCAR6 |
| de | Autosomal-rezessive zerebelläre Ataxie, infantile, nicht-progressive | Autosomal-rezessive spinozerebelläre Ataxie Typ 6 · SCAR6 |
| es | Ataxia cerebelosa no progresiva de inicio en la lactancia autosómica recesiva | Ataxia espinocerebelosa autosómica recesiva tipo 6 · SCAR6 |
| it | Atassia cerebellare autosomica recessiva non progressiva a esordio infantile | Atassia spinocerebellare autosomica recessiva 6 · SCAR6 |
| nl | Autosomaal recessieve cerebellaire ataxie met aanvang in de kinderjaren | SCAR6 · Autosomaal recessieve spinocerebellaire ataxie type 6 |
| pt | Ataxia cerebelosa não-progressiva autossómica recessiva de início na infância | |
| pl | Autosomalna recesywna niepostępująca ataksja móżdżkowa o początku w wieku niemowlęcym | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-6 · SCAR6 |
| cs | Autozomálně recesivní neprogresivní cerebelární ataxie s nástupem v kojeneckém věku | SCAR6 · Autozomálně recesivní spinocerebelární ataxie, typ 6 |
| uk | Аутосомно-рецесивна інфантильна непрогресуюча мозочкова атаксія | Аутосомно-рецесивна спіноцеребеллярна атаксія типу 6 · SCAR6 |
| zh | 婴幼儿起病常染色体隐性遗传非进行性小脑共济失调 | 常染色体隐性遗传脊髓小脑共济失调6型 |
| tr | İnfantil-başlangıçlı otozomal resesif ilerleyici olmayan serebellar ataksi | SCAR6 · Otozomal çekinik spinoserebellar ataksi tip 6 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608029 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0011950 | E | validated | |
| MeSH | C537312 | E | validated | |
| UMLS | C1842676 | E | validated | |
| GARD | 4954 | 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:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
18 annotations · validated 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002136 | Broad-based gait | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001763 | Pes planus | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0002080 | Intention tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12811539[PMID]_4003033[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284332
- This record as JSON: /data/d/284332.json