RARE DISEASERESEARCH ATLAS

ORPHA:2901

Neuralgic amyotrophy

high confidenceDisorder

Also known as: Acute brachial plexus neuritis · Brachial plexus neuritis · Immune brachial plexus neuropathy · Mononeuritis multiplex with brachial predilection · Neuralgic shoulder amyotrophy

Publications

3,174

93.6th percentile

Trials

1

Interventional, condition-specific

Researchers

889

Distinct authors in sample

Gene link

SEPTIN9

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an (INA, also known as Parsonage-Turner syndrome) and (HNA) form.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

Parsonage Turner Syndrome · acute brachial plexus neuritis · immune brachial plexus neuropathy · mononeuritis multiplex with brachial predilection · neuralgic shoulder amyotrophy

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — SEPTIN9

  2. LiteraturePresent

    3,174 matched papers (1,180 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Probably — there is moderate evidence for SEPTIN9.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

3,174

3,174 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

3,174 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,180 in the last 10 years · high confidence · 93.6th percentile (publications denominator)

Phrase hits: 3,174 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

889

Distinct author names in 200 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
    Sneag DB11 papers · 2025

    From the Department of Radiology and Imaging (S.C.Q., D.B.S.) and Department of Spine and Sports Medicine (C.M.), Hospital for Special Surgery, 535 E 70th St, New York, NY 10021; Department of Radiology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio (A.J.T.); and Blue Star Radiology Associates, Frisco, Tex (J.W.).

    Papers in Europe PMC
  2. 02
    Holle JF5 papers · 2026

    Neurologie, Kliniken der Stadt Köln gGmbH, Köln, Deutschland.

    Papers in Europe PMC
  3. 03
    Tan ET5 papers · 2025

    Department of Radiology and Imaging, Hospital for Special Surgery, New York City, New York, USA.

    Papers in Europe PMC
  4. 04
    Finsterer J4 papers · 2023

    Neurology & Neurophysiology Centre, Postfach 20, 1180 Vienna, Austria. Electronic address: fifigs1@yahoo.de.

    Papers in Europe PMC
  5. 05
    Milani CJ4 papers · 2025

    Department of Physiatry, Hospital for Special Surgery, New York City, New York, USA.

    Papers in Europe PMC
  6. 06
    van Alfen N4 papers · 2026

    Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

    Papers in Europe PMC
  7. 07
    Windisch W4 papers · 2026

    Pneumologie, Kliniken der Stadt Köln gGmbH, Universität Witten/Herdecke, Köln, Deutschland.

    Papers in Europe PMC
  8. 08
    Anderson N3 papers · 2025

    Department of Neurology (N.M., N.A., A.N.P., B.R.B., R.P.K.), University of California San Francisco, San Francisco, California.

    Papers in Europe PMC
  9. 09
    Campbell GJ3 papers · 2025

    Department of Radiology and Imaging, Hospital for Special Surgery, New York City, New York, USA.

    Papers in Europe PMC
  10. 10
    Feinberg JH3 papers · 2025

    Center for Brachial Plexus and Traumatic Nerve Injury (K.R.K., D.B.S., J.H.F., and S.W.W.) and Department of Radiology and Imaging (D.B.S.), Hospital for Special Surgery, New York, NY.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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.

Recruiting or not-yet-recruiting

Open the complete matched 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 on the overview but are not added to the query string.

"Neuralgic amyotrophy" OR "Acute brachial plexus neuritis" OR "Brachial plexus neuritis" OR "Immune brachial plexus neuropathy" OR "Mononeuritis multiplex with brachial predilection" OR "Neuralgic shoulder amyotrophy" OR "Parsonage Turner Syndrome"

Run this search on Europe PMC

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

"Neuralgic amyotrophy" OR "Acute brachial plexus neuritis" OR "Brachial plexus neuritis" OR "Immune brachial plexus neuropathy" OR "Mononeuritis multiplex with brachial predilection" OR "Neuralgic shoulder amyotrophy" OR "Parsonage Turner Syndrome" OR "SEPTIN9"

Recall-expansion terms: SEPTIN9

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.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T21:36:53.496Z