Benign paroxysmal tonic upgaze of childhood with ataxia
Synonyms: Ouvrier-Billson syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Benign paroxysmal tonic upgaze of childhood with ataxia | Ouvrier-Billson syndrome |
| fr | Déviation tonique paroxystique bénigne du regard avec ataxie | Syndrome d'Ouvrier-Billson |
| de | Ataxie mit tonischer Aufwärtsabweichung der Augen | Ouvrier-Billson-Syndrom |
| es | Desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia | Síndrome de Ouvrier-Billson |
| it | Deviazione superiore tonica parossistica benigna infantile degli occhi con atassia | Sindrome di Ouvrier-Billson |
| nl | Goedaardig paroxysmaal tonisch omhoogdraaien van ogen in de kindertijd met ataxie | Syndroom van Ouvrier-Billson |
| pt | Desvio tónico paroxístico benigno do olhar da infância com ataxia | Síndrome Ouvrier-Billson |
| pl | Napadowe toniczne patrzenie ku górze u niemowląt z ataksją | Zespół Ouvriera i Billsona |
| cs | Benigní paroxyzmální tonický pohled dětského věku s ataxií | Ouvrierův-Billsonův syndrom · Ouvrier-Billsonův syndrom |
| uk | Доброякісне пароксизмальне тонічне відведення погляду вгору дитячого віку з атаксією | Синдром Оврієра-Білльсона |
| zh | 儿童良性阵发性强直性上凝视伴共济失调 | Ouvrier-Billson综合征 |
| tr | Çocukluk çağında ataksi ile birlikte selim tonik yukarı bakışlı paroksismal nöbet | Ouvrier-Billson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 168885 | E | validated | |
| ICD-10 | G96.8 | NTBT | attributed | validated |
| ICD-11 | 9C83.11 | NTBT | index | validated |
| MONDO | 0008206 | E | validated | |
| MeSH | C566817 | E | validated | |
| UMLS | C1868576 | E | validated | |
| GARD | 4176 | 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:306768Rare paroxysmal movement disorder
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 | 12 cases | Worldwide | Case(s) | Validated | 8495825[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8495825[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0002131 | Episodic ataxia | |
| HP:0000639 | Nystagmus | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1179
- This record as JSON: /data/d/1179.json