Perioral myoclonia with absences
Synonyms: POMA
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Perioral myoclonia with absences | POMA |
| fr | Myoclonie périorale avec absence | = en |
| de | Periorale Myoklonie mit Absencen | = en |
| es | Mioclonía perioral con ausencias | |
| it | Mioclonia periorale con assenze | = en |
| nl | Periorale myoclonus met absences | = en |
| pt | Mioclonia perioral com ausências | |
| pl | Mioklonia okołoustna z napadami nieświadomości | = en |
| cs | Periorální myoklonie s absencemi | = en |
| uk | Періоральна міоклонія з абсансами | = en |
| zh | 口周肌阵挛伴失神发作 | = en |
| tr | Absanslı perioral miyokloni | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0015345 | E | validated | |
| UMLS | C4707846 | 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:98259Childhood-onset epilepsy syndrome
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 | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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 2016-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0010850 | EEG with spike-wave complexes | |
| Very frequent (99-80%) | ||
| HP:0012462 | Chin myoclonus | |
| HP:0011168 | Eyelid myoclonias | |
| HP:0002371 | Loss of speech | |
| HP:0004372 | Reduced consciousness | |
| Frequent (79-30%) | ||
| HP:0002123 | Generalized myoclonic seizure | Diagnostic criterion |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0002527 | Falls | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 9253489[PMID]_21570919[PMID]_15820362[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139426
- This record as JSON: /data/d/139426.json