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progressive myoclonic epilepsy with dystonia (PMED) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive myoclonic epilepsy with dystonia

MONDO:0018126

Also known as:PMEDprogressive myoclonus epilepsy with dystonia

Overview

A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.

ResearchLimited published research (4 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 progressive myoclonic epilepsy with dystonia.

9 publications have been identified in PubMed for progressive myoclonic epilepsy with dystonia. Kisho has analyzed 4 by research type. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Dhar D (2025). [PMID: 38842035](https://pubmed.ncbi.nlm.nih.gov/38842035/). *Neuroscientist*. [Review / Meta-Analysis]
Garris J (2025). [PMID: 40534755](https://pubmed.ncbi.nlm.nih.gov/40534755/). *Epilepsy Curr*. [Review / Meta-Analysis]
Mastrangelo M (2025). [PMID: 40602760](https://pubmed.ncbi.nlm.nih.gov/40602760/). *Neuropediatrics*. [Case Report / Case Series]
Wu X (2024). [PMID: 38953026](https://pubmed.ncbi.nlm.nih.gov/38953026/). *Front Immunol*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:352596

GARD

Genetic and Rare Diseases Info Center

GARD:17522

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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progressive myoclonic epilepsy with dystonia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team