ORPHA:98755
Spinocerebellar ataxia type 1
Synonyms: SCA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 1 | SCA1 |
| fr | Ataxie spinocérébelleuse type 1 | = en |
| de | Ataxie, spinozerebelläre, Typ 1 | = en |
| es | Ataxia espinocerebelosa tipo 1 | = en |
| it | Atassia spinocerebellare, tipo 1 | = en |
| nl | Spinocerebellaire ataxie type 1 | = en |
| pt | Ataxia espinocerebelosa tipo 1 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 1 | = en |
| cs | Spinocerebelární ataxie, typ 1 | = en |
| uk | Спіноцеребеллярна атаксія, тип 1 | = en |
| zh | 脊髓小脑共济失调1型 | = en |
| tr | Spinoserebellar ataksi tip 1 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164400 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0008119 | E | validated | |
| UMLS | C0752120 | E | validated | |
| GARD | 4071 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10548 | ENSG00000124788 | 601556 | 6p22.3 | ataxin 1 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Worldwide | Value and class | Validated | 20301363[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
40 annotations · validated 2018-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009830 | Peripheral neuropathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0007928 | Abnormal flash visual evoked potentials | |
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0002067 | Bradykinesia | |
| HP:0002483 | Bulbar signs | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0030216 | Inertia | |
| HP:0007001 | Loss of Purkinje cells in the cerebellar vermis | |
| HP:0002354 | Memory impairment | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0001350 | Slurred speech | |
| HP:0025401 | Staring gaze | |
| HP:0025331 | Upgaze palsy | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0002380 | Fasciculations | |
| HP:0002141 | Gait imbalance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0007338 | Hypermetric saccades | |
| HP:0001265 | Hyporeflexia | |
| HP:0010831 | Impaired proprioception | |
| HP:0000639 | Nystagmus | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000648 | Optic atrophy | |
| HP:0002174 | Postural tremor | |
| HP:0002878 | Respiratory failure | |
| HP:0003202 | Skeletal muscle atrophy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301363[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98755
- This record as JSON: /data/d/98755.json