Episodic ataxia with slurred speech
Synonyms: Episodic ataxia type 8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Episodic ataxia with slurred speech | Episodic ataxia type 8 |
| fr | Ataxie épisodique avec troubles de l'élocution | Ataxie épisodique type 8 |
| de | Episodische Ataxie mit undeutlicher Aussprache | Ataxie, episodische, Typ 8 |
| es | Ataxia episódica con trastornos del habla | Ataxia episódica tipo 8 |
| it | Atassia episodica con difficoltà del linguaggio | Atassia episodica, tipo 8 |
| nl | Episodische ataxie met onduidelijke spraak | Episodische ataxie type 8 |
| pt | Ataxia episódica com discurso arrastado | |
| pl | Epizodyczna ataksja z niewyraźną mową | Epizodyczna ataksja typu 8 |
| cs | Epizodická ataxie se setřelou řečí | Epizodická ataxie, typ 8 |
| uk | Епізодична атаксія з невиразним мовленням | Епізодична атаксія типу 8 |
| zh | 发作性共济失调伴言语不清 | 发作性共济失调8型 |
| tr | Geveleyerek konuşma ile seyreden epizodik ataksi | Epizodik ataksi tip 8 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616055 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0014476 | E | validated | |
| UMLS | C4015108 | 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:211062Hereditary episodic ataxia
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 | 13 cases | Worldwide | Case(s) | Validated | 23982692[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23982692[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
10 annotations · validated 2018-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001324 | Muscle weakness | |
| HP:0002172 | Postural instability | |
| HP:0001350 | Slurred speech | |
| Frequent (79-30%) | ||
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0000639 | Nystagmus | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0002076 | Migraine | |
| HP:0002411 | Myokymia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23982692[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401953
- This record as JSON: /data/d/401953.json