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perioral myoclonia with absences (POMA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

perioral myoclonia with absences

MONDO:0015345

Also known as:POMA

Overview

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.

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for perioral myoclonia with absences.

4 publications have been identified in PubMed for perioral myoclonia with absences. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Clinical Trial Publication (33%).

Recent Publications

Yang H (2025). [PMID: 40359772](https://pubmed.ncbi.nlm.nih.gov/40359772/). *Seizure*. [Clinical Trial Publication]
Beniczky S (2025). [PMID: 41081650](https://pubmed.ncbi.nlm.nih.gov/41081650/). *Epileptic disorders : international epilepsy journal with videotape*. [Review / Meta-Analysis]
Muccioli L (2025). [PMID: 41003650](https://pubmed.ncbi.nlm.nih.gov/41003650/). *Epilepsia open*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 10:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:139426

GARD

Genetic and Rare Diseases Info Center

GARD:19915

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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perioral myoclonia with absences

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team