Sporadic adult-onset ataxia of unknown etiology
Synonyms: Idiopathic late-onset cerebellar ataxia · SAOA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic adult-onset ataxia of unknown etiology | Idiopathic late-onset cerebellar ataxia · SAOA |
| fr | Ataxie sporadique tardive d'étiologie indéterminée | Ataxie sporadique de l'adulte d'étiologie indéterminée · ILOCA · SAOA |
| de | Sporadische Ataxie unbekannter Ätiologie im Erwachsenenalter | Idiopathische spät-einsetzende zerebelläre Ataxie · SAOA |
| es | Ataxia esporádica de inicio en el adulto de etiología desconocida | Ataxia cerebelosa idiopática de inicio tardío · SAOA |
| it | Atassia sporadica a eziologia non nota e a esordio nell'età adulta | Atassia cerebellare idiopatica a esordio tardivo · SAOA |
| nl | Sporadische ataxie met aanvang op volwassen leeftijd met onbekende etiologie | Idiopathische cerebellaire ataxie met late aanvang · SAOA |
| pt | Ataxia esporádica com início no adulto sem etiologia conhecida | |
| pl | Sporadyczna ataksja dorosłych o nieznanej etiologii | Idiopatyczna ataksja móżdżkowa o późnym początku · SAOA |
| cs | Sporadická ataxie neznámého původu s nástupem v dospělosti | SAQA · Idiopatická cerebelární ataxie s pozdním začátkem |
| uk | Спорадична атаксія у дорослих невідомої етіології | Ідіопатична мозочкова атаксія з пізнім початком · SAOA |
| zh | 病因不明散发性成人共济失调 | 孤立性晚发性小脑共济失调 |
| tr | Sporadik yetişkin başlangıçlı, etiyolojisi bilinmeyen ataksi | SAOA · İdiyopatik geç-başlangıçlı serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0016591 | E | validated | |
| UMLS | C4518339 | 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:247239Non-hereditary degenerative ataxia
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.6 / 100 000 | Europe | Value and class | Not yet validated | 20083040[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.9 / 100 000 | Italy | Value and class | Validated | 7793232[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.4 / 100 000 | United Kingdom | Value and class | Validated | 15258214[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
28 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0001251 | Ataxia | |
| HP:0002066 | Gait ataxia | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0007670 | Abnormal vestibulo-ocular reflex | |
| HP:0008278 | Cerebellar cortical atrophy | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0000608 | Macular degeneration | |
| HP:0002354 | Memory impairment | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0002304 | Akinesia | |
| HP:0003487 | Babinski sign | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0002015 | Dysphagia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000338 | Hypomimic face | |
| HP:0001300 | Parkinsonism | |
| HP:0002322 | Resting tremor | |
| HP:0002063 | Rigidity | |
| HP:0000763 | Sensory neuropathy | |
| HP:0002362 | Shuffling gait | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0000726 | Dementia | |
| HP:0002080 | Intention tremor | |
| HP:0000020 | Urinary incontinence | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26517211[PMID]_21827893[PMID]_2341843[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247234
- This record as JSON: /data/d/247234.json