Autosomal recessive cerebellar ataxia-movement disorder syndrome
Synonyms: SCAR4 · SCASI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Elderly, Infancy
- Status
- active
A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-movement disorder syndrome | SCAR4 · SCASI |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-anomalie du mouvement | = en |
| de | Autosomal-rezessive zerebelläre Ataxie-Bewegungsstörungen-Syndrom | = en |
| es | Síndrome de ataxia cerebelosa-trastorno del movimiento autosómico recesivo | = en |
| it | Sindrome da atassia cerebellare autosomica recessiva e disturbi del movimento | = en |
| nl | Autosomaal recessieve cerebellaire ataxie - bewegingsstoornis-syndroom | = en |
| pt | Síndrome de ataxia cerebelosa autossómica recessiva-doença do movimento | |
| pl | Autosomalna recesywna ataksja móżdżkowa - wtręty sakadyczne | = en |
| cs | Syndrom zahrnující autozomálně recesivní cerebelární ataxii a sakadické pohyby očí | = en |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-рухового розладу | = en |
| zh | 常染色体隐性小脑共济失调-扫视性侵扰综合征 | = en |
| tr | Otozomal resesif serebellar ataksi-sakkadik intrüzyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607317 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0011811 | E | validated | |
| MeSH | C537310 | E | validated | |
| UMLS | C1846492 | E | validated | |
| GARD | 4952 | 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:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS13D | Disease-causing germline mutation(s) in | Assessed | HGNC:23595 | ENSG00000048707 | 608877 | 1p36.22-p36.21 | vacuolar protein sorting 13 homolog D | 29604224[PMID] |
| VPS41 | Disease-causing germline mutation(s) in | Assessed | HGNC:12713 | ENSG00000006715 | 605485 | 7p14.1 | VPS41 subunit of HOPS complex | 33764426[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 29518282[PMID]_29604224[PMID]_31876103[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29518282[PMID]_29604224[PMID]_31876103[PMID]_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
20 annotations · validated 2018-05-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0025404 | Abnormal visual fixation | |
| HP:0002066 | Gait ataxia | |
| HP:0002070 | Limb ataxia | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002078 | Truncal ataxia | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Frequent (79-30%) | ||
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0001260 | Dysarthria | |
| HP:0010522 | Dyslexia | |
| HP:0002380 | Fasciculations | |
| HP:0007338 | Hypermetric saccades | |
| HP:0010831 | Impaired proprioception | |
| HP:0001761 | Pes cavus | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001336 | Myoclonus | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 11960835[PMID]_14681893[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95434
- This record as JSON: /data/d/95434.json