Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Synonyms: Autosomal recessive spinocerebellar ataxia type 7 · SCAR7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | Autosomal recessive spinocerebellar ataxia type 7 · SCAR7 |
| fr | Ataxie spinocérébelleuse autosomique récessive lentement progressive de l'enfant | Ataxie spinocérébelleuse autosomique récessive type 7 · SCAR7 |
| de | Autosomal-rezessive spinozerebelläre Ataxie mit Beginn in der Kindheit, langsam fortschreitend | Autosomal-rezessive spinozerebelläre Ataxie Typ 7 · SCAR7 |
| es | Ataxia espinocerebelosa lentamente progresiva de inicio en la infancia autosómica recesiva | Ataxia espinocerebelosa autosómica recesiva tipo 7 · SCAR7 |
| it | Atassia spinocerebellare autosomica recessiva a progressione lenta ed esordio infantile | Atassia spinocerebellare autosomica recessiva 7 · SCAR7 |
| nl | Autosomaal recessieve langzaam ontwikkelende spinocerebellaire ataxie met aanvang in de kinderjaren | Autosomaal recessieve spinocerebellaire ataxie type 7 · SCAR7 |
| pt | Ataxia espinocerebelosa lentamente progressiva autossómica recessiva de início na infância | |
| pl | Autosomalna recesywna wolno postępująca ataksja rdzeniowo-móżdżkowa o początku w wieku dziecięcym | Autosomalna recesywna ataksja rdzeniowo-móżdżkowa-7 · SCAR7 |
| cs | Autozomálně recesivní pomalu progredující spinocerebelární ataxie s nástupem v dětském věku | SCAR7 · Autozomálně recesivní spinocerebelární ataxie, typ 7 |
| uk | Аутосомно-рецесивна повільно прогресуюча спіноцеребеллярна атаксія, що починається в дитячому віці | Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 7 · SCAR7 |
| zh | 儿童起病常染色体隐性遗传缓慢进行性脊髓小脑共济失调 | 常染色体隐性遗传脊髓小脑共济失调7型 |
| tr | Çocukluk-çağında başlayan otozomal resesif yavaş ilerleyici spinoserebellar ataksi | SCAR7 · Otozomal çekinik spinoserebellar ataksi tip 7 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609270 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0012235 | E | validated | |
| MeSH | C563753 | E | validated | |
| UMLS | C1836474 | E | validated | |
| GARD | 12232 | 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:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TPP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2073 | ENSG00000166340 | 607998 | 11p15.4 | tripeptidyl peptidase 1 | 23418007[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
21 annotations · validated 2018-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002073 | Progressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002136 | Broad-based gait | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0000641 | Dysmetric saccades | |
| HP:0001288 | Gait disturbance | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0001347 | Hyperreflexia | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0002070 | Limb ataxia | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0002168 | Scanning speech | |
| Occasional (29-5%) | ||
| HP:0003445 | EMG: neuropathic changes | |
| HP:0002174 | Postural tremor | |
| Excluded (0%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21749694[PMID]_15520412[PMID]_23418007[PMID]_26224725[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284324
- This record as JSON: /data/d/284324.json