ORPHA:352596
Progressive myoclonic epilepsy with dystonia
Also known as: PMED · Progressive myoclonus epilepsy with dystonia
Clinical definition (Orphanet)
myoclonic with dystonia is a rare, genetic syndrome characterized by or early onset of severe, , typically frequent and prolonged myoclonic that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe , hemiplegia, psychomotor regression (or lack of psychomotor development) and cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
7
7 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
7 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2 in the last 10 years · medium confidence · 15.3th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
medium confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
35
Distinct author names in 7 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Boyd S1 paper · 2017
Department of Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Papers in Europe PMC - 02Bras J1 paper · 2017
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Papers in Europe PMC - 03Bressman SB1 paper · 2013
Department of Neurology, Beth Israel Medical Center, New York, New York, USA.
Papers in Europe PMC - 04Buijink AW1 paper · 2012
Department of Neurology and Clinical Neurophysiology, Academic Medical Center, University of Amsterdam Amsterdam, Netherlands.
Papers in Europe PMC - 05Caviness JN1 paper · 2020
Department of Neurology, Mayo Clinic Arizona, 13400 East Shea Blvd., Scottsdale, Arizona, 85259, USA.
Papers in Europe PMC - 06Chong WK1 paper · 2017
Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Papers in Europe PMC - 07Contarino MF1 paper · 2012Papers in Europe PMC
- 08Duru N1 paper · 2010
Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
Papers in Europe PMC - 09Fredholm BB1 paper · 1983Papers in Europe PMC
- 10Guerreiro R1 paper · 2017
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Progressive myoclonic epilepsy with dystonia" OR "Progressive myoclonus epilepsy with dystonia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Progressive myoclonic epilepsy with dystonia" OR "Progressive myoclonus epilepsy with dystonia" OR "epilepsy syndrome"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C4706413
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PMED
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus