perioral myoclonia with absences
Findings
No curated finding names perioral myoclonia with absences yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Perioral myoclonia with absences is 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.
Definition from the Mondo Disease Ontology (MONDO:0015345), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- Obligate (100% of cases)
- EEG with spike-wave complexesHPOHP:0010850
- Obligate (100% of cases)
- Chin myoclonusHPOHP:0012462
- Very frequent (80% to 99% of cases)
- Focal seizure with eyelid myocloniaHPOHP:0011168
- Very frequent (80% to 99% of cases)
- Loss of speechHPOHP:0002371
- Very frequent (80% to 99% of cases)
- Reduced consciousnessHPOHP:0004372
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizure
Where it sits
- A kind of
Other names
1 name
Resolves to: perioral myoclonia with absences
- Also called
- POMA