RARE DISEASERESEARCH ATLAS

ORPHA:238606

Primary orthostatic tremor

medium confidence

Also known as: POT

Clinical definition (Orphanet)

A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.

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.

Orphanet entry

Is anyone studying this?

184

184 papers have ever been published on this condition (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.

184 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).

81 in the last 10 years · medium confidence · 63.7th percentile (publications denominator)

Is a treatment being tested?

3

trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 26 July 2026

3 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 79.4th percentile).

medium confidence · 79.4th 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?

558

Distinct author names in 184 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.

  1. 01
    Elble RJ7 papers · 2026

    Department of Neurology, Southern Illinois University School of Medicine, 751 North Rutledge, PO Box 19643, Springfield, IL 62794-9643, USA.

    Papers in Europe PMC
  2. 02
    Apartis E6 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 7 AP-HP, Hôpital de Saint-Antoine, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  3. 03
    Deuschl G6 papers · 2022

    Neurologische Klinik der Christian-Albrechts-Universität zu Kiel, Germany.

    Papers in Europe PMC
  4. 04
    van Rootselaar AF6 papers · 2026

    Neurology and Clinical Neurophysiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Vidailhet M6 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  6. 06
    de Bie RMA5 papers · 2026

    Neurology and Clinical Neurophysiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Marsden CD5 papers · 2000
    Papers in Europe PMC
  8. 08
    Roze E5 papers · 2021

    2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

    Papers in Europe PMC
  9. 09
    Torres-Russotto D5 papers · 2023

    Movement Disorders Division, Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, NE, USA.

    Papers in Europe PMC
  10. 10
    Af Edholm K4 papers · 2026

    Department of Clinical Sciences, Karolinska Institutet Danderyds Sjukhus, Stockholm, Sweden.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

This 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.

"Primary orthostatic tremor"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Primary orthostatic tremor

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Primary orthostatic tremor"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Cross-references (from Mondo): MESH:C536418 UMLS:C0878578

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: POT

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

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