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ORPHA:590

Congenital myasthenic syndrome

medium confidenceDisorder

Also known as: CMS

Publications

12,735

98.4th percentile

Trials

5

Interventional, condition-specific

Researchers

1,255

Distinct authors in sample

Gene link

CHD8, CHRNE, GMPPB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neuromuscular disease characterized by impaired transmission at the neuromuscular junction, typically presenting in infancy or childhood, although later onset is possible. The hallmark symptom is muscle fatigability, frequently accompanied by ocular manifestations (ptosis, ophthalmoparesis), bulbar involvement (dysphagia), a generalized weakness, which can lead to potentially life-threatening respiratory insufficiency.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Congenital Myasthenic Syndromes · myasthenic syndrome, congenital

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

    Definitive — CHD8, CHRNE, GMPPB, PLEC, RPH3A…

  2. LiteraturePresent

    12,735 matched papers (8,767 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

    5 matched on ClinicalTrials.gov (2 recruiting in sample)

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?

Yes — we know a specific gene responsible (CHD8, CHRNE, GMPPB…).

GenCC classification: Definitive.

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?

12,735

12,735 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

12,735 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).

8,767 in the last 10 years · medium confidence · 98.4th percentile (publications denominator)

Phrase hits: 12,735 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,255

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
    Beeson D8 papers · 2026

    Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.

    Papers in Europe PMC
  2. 02
    Lochmüller H8 papers · 2026

    Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.

    Papers in Europe PMC
  3. 03
    Maselli RA6 papers · 2026

    Department of Neurology, University of California Davis, Davis, CA, United States.

    Papers in Europe PMC
  4. 04
    Palace J6 papers · 2026

    Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.

    Papers in Europe PMC
  5. 05
    Nafissi S5 papers · 2026

    Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. nafisi@sina.tums.ac.ir.

    Papers in Europe PMC
  6. 06
    Ramdas S5 papers · 2026

    Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.

    Papers in Europe PMC
  7. 07
    Spendiff S5 papers · 2026

    Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.

    Papers in Europe PMC
  8. 08
    Dong YY4 papers · 2026

    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  9. 09
    Eymard B4 papers · 2026

    Neurology department, Pitié Saleptriere university hospital, Paris, France.

    Papers in Europe PMC
  10. 10
    Finsterer J4 papers · 2025

    Neurology Department, Neurology and Neurophysiology Center, Vienna, AUT.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

medium confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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.

"Congenital myasthenic syndrome" OR "Congenital Myasthenic Syndromes" OR "myasthenic syndrome, congenital"

Run this search on Europe PMC

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

"Congenital myasthenic syndrome" OR "Congenital Myasthenic Syndromes" OR "myasthenic syndrome, congenital" OR "CHD8" OR "CHRNE" OR "GMPPB" OR "PLEC" OR "RPH3A" OR "UNC13A" OR "UNC50"

Recall-expansion terms: CHD8, CHRNE, GMPPB, PLEC, RPH3A, UNC13A, UNC50

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: 5 interventional · 8 observational · 3 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

Synonyms dropped by stoplist: CMS

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

Ingested 2026-07-26T14:28:58.684Z