Spastic ataxia with congenital miosis
Synonyms: Autosomal dominant spastic ataxia type 7 · SPAX7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic ataxia with congenital miosis | Autosomal dominant spastic ataxia type 7 · SPAX7 |
| fr | Syndrome d'ataxie-myosis congénital | Ataxie spastique autosomique dominante type 7 · SPAX7 |
| de | Spastische Ataxie mit kongenitaler Miosis | SPAX7 · Spastische Ataxie, autosomal-dominante, Typ 7 |
| es | Ataxia espástica con miosis congénita | Ataxia espástica autosómica dominante tipo 7 · SPAX7 |
| it | Atassia spastica con miosi congenita | |
| nl | Spastische ataxie met congenitale miose | Autosomaal dominante spastische ataxie type 7 · SPAX7 |
| pt | Ataxia espástica com miose congénita | |
| pl | Ataksja spastyczna z miozą wrodzoną | SPAX7 · Autosomalna dominująca ataksja spastyczna typu 7 |
| cs | Spastická ataxie s vrozenou miózou | = en |
| uk | Спастична атаксія з вродженим міозом | Аутосомно-домінантна спастична атаксія, тип 7 · SPAX7 |
| zh | 痉挛性共济失调伴先天性瞳孔缩小 | 常染色体显性遗传痉挛性共济失调7型 |
| tr | Doğumsal miyozlu spastik ataksi | SPAX7 · Otozomal dominant spastik ataksi tip 7 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108650 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0007165 | E | validated | |
| MeSH | C566247 | E | validated | |
| UMLS | C1862441 | 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 (3):
- ORPHA:316235Autosomal dominant spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
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 | 3 families | Worldwide | Family(ies) | Validated | 6821680[PMID]_17584505[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17584505[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0007728 | Congenital miosis | |
| HP:0001260 | Dysarthria | |
| Frequent (79-30%) | ||
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001347 | Hyperreflexia | |
| HP:0000639 | Nystagmus | |
| HP:0002497 | Spastic ataxia | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1182
- This record as JSON: /data/d/1182.json