Spinocerebellar ataxia type 38
Synonyms: SCA38
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 38 | SCA38 |
| fr | Ataxie spinocérébelleuse type 38 | = en |
| de | Ataxie, spinozerebelläre, Typ 38 | = en |
| es | Ataxia espinocerebelosa tipo 38 | = en |
| it | Atassia spinocerebellare, tipo 38 | = en |
| nl | Spinocerebellaire ataxie type 38 | = en |
| pt | Ataxia espinocerebelosa tipo 38 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 38 | = en |
| cs | Spinocerebelární ataxie, typ 38 | = en |
| uk | Спіноцеребеллярна атаксія, тип 38 | = en |
| zh | 脊髓小脑共济失调38型 | = en |
| tr | Spinoserebellar ataksi tip 38 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615957 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 14417 | E | validated | |
| UMLS | C4518337 | 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 (3):
- ORPHA:94148Autosomal dominant cerebellar ataxia type III
rare genetic diseases; rare neurological diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELOVL5 | Disease-causing germline mutation(s) in | Assessed | HGNC:21308 | ENSG00000012660 | 611805 | 6p12.1 | ELOVL fatty acid elongase 5 | 25065913[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 25065913[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25065913[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
11 annotations · validated 2018-04-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0000639 | Nystagmus | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0003474 | Somatic sensory dysfunction | |
| Occasional (29-5%) | ||
| HP:0002460 | Distal muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001337 | Tremor | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25065913[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/423296
- This record as JSON: /data/d/423296.json