X-linked spinocerebellar ataxia type 4
Synonyms: SCAX4 · X-linked ataxia-dementia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
A rare X-linked spinocerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spinocerebellar ataxia type 4 | SCAX4 · X-linked ataxia-dementia syndrome |
| fr | Ataxie spinocérébelleuse liée à l'X type 4 | SCAX4 · Syndrome d'ataxie-démence lié à l'X |
| de | Ataxie, spinozerebelläre X-chromosomale, Typ 4 | Ataxia-Demenz-Syndrom, X-chromosomales · SCAX4 |
| es | Ataxia espinocerebelosa ligada al cromosoma X tipo 4 | SCAX4 · Síndrome de demencia-ataxia ligada al cromosoma X |
| it | Atassia spinocerebellare legata all'X, tipo 4 | SCAX4 · Sindrome atassia-demenza, legata all'X |
| nl | X-gebonden spinocerebellaire ataxie type 4 | SCAX4 · X-gebonden ataxie - dementie-syndroom |
| pt | Ataxia espinocerebelosa ligada ao X tipo 4 | |
| pl | Ataksja rdzeniowo-móżdżkowa typu 4 sprzężona z chromosomem X | SCAX4 · Zespół ataksja-demencja sprzężony z chromosem X |
| cs | X-vázaná spinocerebelární ataxie, typ 4 | SCAX4 · X-vázaný syndrom zahrnující ataxii a demenci |
| uk | Х-зчеплена спіноцеребеллярна атаксія, тип 4 | SCAX4 · Х-зчеплений синдром атаксії-деменції |
| zh | X连锁脊髓小脑共济失调4型 | X-连锁共济失调-痴呆综合征 |
| tr | X'e bağlı spinoserebellar ataksi tip 4 | SCAX4 · X'e bağlı ataksi-demans sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301840 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010534 | E | validated | |
| MeSH | C537316 | E | validated | |
| UMLS | C1844933 | E | validated | |
| GARD | 9980 | 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 (4):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:89043Rare dementia
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 3470628[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
7 annotations · validated 2018-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000726 | Dementia | |
| HP:0001288 | Gait disturbance | |
| HP:0002354 | Memory impairment | |
| HP:0001270 | Motor delay | |
| HP:0002174 | Postural tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 3470628[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85292
- This record as JSON: /data/d/85292.json