Progressive myoclonus epilepsy

MONDO:0020074

A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.

Also known as: PME, epilepsy, progressive myoclonic, progressive myoclonic epilepsy, progressive myoclonic epilepsy (disorder) [ambiguous], progressive myoclonus epilepsy, familial progressive myoclonic epilepsy

19 clinical trials for this condition and its sub-types, 5 tagged with Progressive myoclonus epilepsy itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neurological disease (5772) ↑ Myoclonic epilepsy (16) ↑ Variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration (14)

Sub-types of Progressive myoclonus epilepsy

MERRF syndrome 5 trials
Lafora disease 1 trial
2 sub-types
- Myoclonic epilepsy of Lafora 1 0 trials
- Myoclonic epilepsy of Lafora 2 0 trials
Unverricht-Lundborg syndrome 1 trial
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
Action myoclonus-renal failure syndrome 0 trials
Early-onset Lafora body disease 0 trials
Epilepsy, progressive myoclonic, 11 0 trials
Epilepsy, progressive myoclonic, 12 0 trials
Epilepsy, progressive myoclonic, 1B 0 trials
Familial encephalopathy with neuroserpin inclusion bodies 0 trials
Progressive myoclonic epilepsy type 3 0 trials
Progressive myoclonic epilepsy type 6 0 trials
Progressive myoclonic epilepsy type 7 0 trials
Progressive myoclonic epilepsy type 8 0 trials
Progressive myoclonic epilepsy type 9 0 trials

Including sub-types (19) Tagged with Progressive myoclonus epilepsy (5)

Trials to join now! 1 Not yet finished but already full! 3 Completed 1

Researchers launch major study to track rare epilepsy EPM1 over time

Knowledge-focused Recruiting now

This study is following 200 people with a confirmed genetic diagnosis of EPM1, a rare and progressive epilepsy disorder. Researchers will collect clinical data and biological samples (blood and urine) over time to understand how the disease progresses. The goal is to identify bio…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 11:03 UTC

Progressive myoclonus epilepsy

Where it sits in the disease tree

Researchers launch major study to track rare epilepsy EPM1 over time