Adult-onset autosomal recessive cerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 10 · SCAR10
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset autosomal recessive cerebellar ataxia | Autosomal recessive spinocerebellar ataxia type 10 · SCAR10 |
| fr | Ataxie cérébelleuse autosomique récessive de l'adulte | Ataxie spinocérébelleuse autosomique récessive type 10 · SCAR10 |
| de | Autosomal-rezessive zerebelläre Ataxie mit Beginn im Erwachsenenalter | Autosomal-rezessive spinozerebelläre Ataxie Typ 10 · SCAR10 |
| es | Ataxia cerebelosa autosómica recesiva de inicio en el adulto | Ataxia espinocerebelosa autosómica recesiva tipo 10 · SCAR10 |
| it | Atassia cerebellare autosomica recessiva a esordio nell'età adulta | SCAR10 · Atassia spinocerebellare autosomica recessiva 10 |
| nl | Autosomaal recessieve cerebellaire ataxie met aanvang in de volwassenheid | Autosomaal recessieve spinocerebellaire ataxie type 10 · SCAR10 |
| pt | Ataxia cerebelosa autossómica recessiva de início no adulto | |
| pl | Autosomalna recesywna ataksja móżdżkowa o początku w wieku dorosłym | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-10 · SCAR10 |
| cs | Autozomálně recesivní cerebelární ataxie s nástupem v dospělém věku | SCAR10 · Autozomálně recesivní spinocerebelární ataxie, typ 10 |
| uk | Аутосомно-рецесивна мозочкова атаксія, що починається в дорослому віці | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 10 · SCAR10 |
| zh | 成人起病常染色体隐性遗传小脑共济失调 | 常染色体隐性遗传脊髓小脑共济失调10型 |
| tr | Erişkin-başlangıçlı otozomal resesif serebellar ataksi | SCAR10 · Otozomal çekinik spinoserebellar ataksi tip 10 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613728 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| MONDO | 0013392 | E | validated | |
| UMLS | C3150998 | 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 (2):
- ORPHA:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO10 | Disease-causing germline mutation(s) in | Assessed | HGNC:25519 | ENSG00000160746 | 613726 | 3p22.1-p21.33 | anoctamin 10 | 21092923[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25182700[PMID] |
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 25182700[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 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0011448 | Ankle clonus | |
| HP:0001348 | Brisk reflexes | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0010545 | Downbeat nystagmus | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0000641 | Dysmetric saccades | |
| HP:0003457 | EMG abnormality | |
| HP:0002380 | Fasciculations | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001347 | Hyperreflexia | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0002070 | Limb ataxia | |
| HP:0000608 | Macular degeneration | |
| HP:0001761 | Pes cavus | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0000508 | Ptosis | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0001350 | Slurred speech | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000651 | Diplopia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0000503 | Tortuosity of conjunctival vessels | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25182700[PMID]_21092923[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284289
- This record as JSON: /data/d/284289.json