Spastic ataxia-corneal dystrophy syndrome
historical
Synonyms: Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome · Spastic ataxia-ocular anomalies syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic ataxia-corneal dystrophy syndrome | Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome · Spastic ataxia-ocular anomalies syndrome |
| fr | Syndrome d'ataxie spinocérébelleuse-dystrophie cornéenne | Syndrome d'ataxie spinocérébelleuse bédouine · Syndrome d'ataxie spinocérébelleuse-anomalies oculaires · Syndrome de Mousa-Al Din-Al Nassar |
| de | Spastische Ataxie-Hornhautdystrophie-Syndrom | Mousa-Al Din-Al Nassar-Syndrom · Spastische Ataxie mit Augenanomalien · Spastische Ataxie vom Beduinen Typ |
| es | Síndrome de ataxia espástica-distrofia corneal | Síndrome de Mousa Al Din Al Nassar · Síndrome de ataxia espástica beduina |
| it | Sindrome da atassia spastica e distrofia della cornea | Atassia spastica - anomalie oculari · Sindrome da atassia spastica, tipo beduino · Sindrome di Mousa-Al Din-Al Nassar |
| nl | Spastische ataxie - corneadystrofie-syndroom | Bedoeïnen spastische ataxiesyndroom · Spastische ataxie - oculaire anomalieën-syndroom · Syndroom van Mousa-Al Din-Al Nassar |
| pt | Síndrome de ataxia espástica-distrofia da córnea | Síndrome de ataxia espástica-anomalias oculares |
| pl | Ataksja spastyczna - dystrofia rogówki | Ataksja spastyczna - nieprawidłowości oczu · Zespół Mousa, Al Din i Al Nassar · Zespół spastycznej ataksji Beduinów |
| cs | Syndrom zahrnující spastickou ataxii a korneální dystrofii | Syndrom zahrnující spastickou ataxii a okulární anomálie · Syndrom spastické ataxie beduínů · Mousův-Al Dinův-Al Nassarův syndrom · Mousa-Al Din-Al Nassarův syndrom |
| uk | Синдром спастичної атаксії та дистрофії рогівки | Синдром бедуїнської спастичної атаксії · Синдром Муси аль-Дін аль-Нассара · Синдром спастичної атаксії та очних аномалій |
| zh | 痉挛性共济失调-角膜营养不良综合征 | 痉挛性共济失调-眼异常综合征 |
| tr | Spastik ataksi-korneal distrofi sendromu | Bedouin spastik ataksi sendromu · Mousa-Al Din-Al Nassar sendromu · Spastik ataksi-oküler anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271320 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0010064 | E | validated | |
| MeSH | C536989 | E | validated | |
| UMLS | C1849085 | E | validated | |
| GARD | 3795 | 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 (4):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:98628Syndromic corneal dystrophy
rare genetic diseases; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 3465874[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3465874[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000519 | Developmental cataract | |
| HP:0000545 | Myopia | |
| HP:0002497 | Spastic ataxia | |
| Frequent (79-30%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0003457 | EMG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000648 | Optic atrophy | |
| HP:0002503 | Spinocerebellar tract degeneration | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2572
- This record as JSON: /data/d/2572.json