ORPHA:254343
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Synonyms: Autosomal recessive spastic ataxia type 4 · SPAX4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | Autosomal recessive spastic ataxia type 4 · SPAX4 |
| fr | Syndrome d'ataxie spastique autosomique récessive-atrophie optique-dysarthrie | Ataxie spastique autosomique récessive type 4 · SPAX4 |
| de | Autosomal-rezessive spastische Ataxie-Optikusatrophie-Dysarthrie-Syndrom | SPAX4 · Spastische Ataxie, autosomal-rezessive, Typ 4 |
| es | Síndrome de ataxia espástica autosómica recesiva-atrofia óptica-disartria | Ataxia espástica autosómica recesiva tipo 4 · SPAX4 |
| it | Aprassia spastica autosomica recessiva con atrofia ottica e disartria | Atassia spastica autosomica recessiva 4 · SPAX4 |
| nl | Autosomaal recessieve spastische ataxie - opticusatrofie - dysartrie-syndroom | Autosomaal recessieve spastische ataxie - optische atrofie - dysartrie-syndroom · Autosomaal recessieve spastische ataxie type 4 · SPAX4 |
| pt | Síndrome de ataxia espástica autossómica recessiva-atrofia óptica-disartria | |
| pl | Autosomalna recesywna ataksja spastyczna - zanik nerwu wzrokowego - dyzartria | Autosomalna recesywna ataksja spastyczna typu 4 · SPAX4 |
| cs | Syndrom zahrnující autozomálně recesivní spastickou ataxii, atrofii optiku a dysartrii | SPAX4 · Autozomálně recesivní spastická ataxie, typ 4 |
| uk | Аутосомно-рецесивний синдром спастичної атаксії - атрофії зорового нерва - дизартрії | Аутосомно-рецесивна спастична атаксія типу 4 · SPAX4 |
| zh | 常染色体隐性痉挛性共济失调-视神经萎缩-构音障碍综合征 | 痉挛性共济失调4型 |
| tr | Otozomal resesif spastik ataksi-optik atrofi-dizartri sendromu | SPAX4 · Otozomal çekinik spastik ataksi tip 4 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613672 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0013354 | E | validated | |
| UMLS | C3150925 | E | validated | |
| GARD | 10992 | 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 (3):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTPAP | Disease-causing germline mutation(s) in | Assessed | HGNC:25532 | ENSG00000107951 | 613669 | 10p11.23 | mitochondrial poly(A) polymerase | 20970105[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 20970105[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20970105[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.
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HPO phenotypes
16 annotations · validated 2018-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001260 | Dysarthria | |
| HP:0001347 | Hyperreflexia | |
| HP:0000648 | Optic atrophy | |
| HP:0002313 | Spastic paraparesis | |
| Frequent (79-30%) | ||
| HP:0002359 | Frequent falls | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0001270 | Motor delay | |
| HP:0000182 | Movement abnormality of the tongue | |
| HP:0001336 | Myoclonus | |
| HP:0000639 | Nystagmus | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0200049 | Upper limb hypertonia | |
| Occasional (29-5%) | ||
| HP:0000712 | Emotional lability | |
| HP:0001265 | Hyporeflexia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20970105[PMID]_25008111[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254343
- This record as JSON: /data/d/254343.json