Spinal atrophy-ophthalmoplegia-pyramidal syndrome
historical
Synonyms: Hamano-Tsukamoto syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal atrophy-ophthalmoplegia-pyramidal syndrome | Hamano-Tsukamoto syndrome |
| fr | Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal | Syndrome de Hamano-Tsukamoto |
| de | Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom | Hamano-Tsukamoto-Syndrom |
| es | Atrofia espinal-oftalmoplejía-síndrome piramidal | Síndrome de Hamano-Tsukamoto |
| it | Atrofia spinale associata a oftalmoplegia e sindrome piramidale | Sindrome di Hamano-Tsukamoto |
| nl | Spinale atrofie - oftalmoplegie - piramidale symptomen-syndroom | Syndroom van Hamano-Tsukamoto |
| pt | Atrofia espinhal-oftalmoplegia-síndrome piramidal | Síndrome Hamano-Tsukamoto |
| pl | Zespół piramidowy z zanikiem rdzenia i oftalmoplegią | Zespół Hamano i Tsukamoto |
| cs | Spinální atrofie, oftalmoplegie a pyramidální syndrom | Hamanův-Tsukamotův syndrom · Hamano-Tsukamotův syndrom |
| uk | Спінальна атрофія-офтальмоплегія-пірамідний синдром | Синдром Хамано-Цукамото |
| zh | 脊髓性肌萎缩-眼肌麻痹-锥体束征综合征 | Hamano-Tsukamoto 综合征 |
| tr | Spinal atrofi-oftalmopleji-piramidal sendrom | Hamano-Tsukamoto sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G12.2 | NTBT | attributed | validated |
| MONDO | 0015250 | E | validated | |
| MeSH | C535625 | E | validated | |
| UMLS | C2930956 | E | validated | |
| GARD | 4942 | 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:206710Generalized bulbospinal muscular atrophy
rare genetic diseases; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 8068160[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8068160[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1217
- This record as JSON: /data/d/1217.json