progressive myoclonic epilepsy with dystonia
Findings
No curated finding names progressive myoclonic epilepsy with dystonia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018126), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- MyoclonusHPOHP:0001336
- Very frequent (80% to 99% of cases)
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Very frequent (80% to 99% of cases)
- Delayed CNS myelinationHPOHP:0002188
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
Show the remaining 10
- Status epilepticusHPOHP:0002133
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
- Diffuse cerebellar atrophyHPOHP:0100275
- Occasional (5% to 29% of cases)
- Diffuse cerebral atrophyHPOHP:0002506
- Occasional (5% to 29% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBC1D24HGNC:29203
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: progressive myoclonic epilepsy with dystonia
- Also called
- PMEDprogressive myoclonus epilepsy with dystonia