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ORPHA:439212

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

high confidenceDisorder

Also known as: EMARDD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

67

53.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

MEGF10

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.

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

Cross-references

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

Additional Mondo synonyms (3)

MEGF10 myopathy · MEGF10-related myopathy · congenital myopathy 10A, severe variant

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — MEGF10

  2. LiteraturePresent

    67 matched papers (52 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 trialPartial

    None under the specific name; 181 for broader category myopathy

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 (MEGF10).

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?

67

67 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=5449) is 41.

67 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).

52 in the last 10 years · high confidence · 53.9th percentile (publications denominator)

Phrase hits: 67 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

Distinct author names in 67 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Maggi L11 papers · 2022

    Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute , Milano, Italy

    Papers in Europe PMC
  2. 02
    Bruno C10 papers · 2022

    Centre of Translational and Experimental Myology

    Papers in Europe PMC
  3. 03
    Santorelli F10 papers · 2022

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , Pisa, Italy

    Papers in Europe PMC
  4. 04
    Mongini T9 papers · 2022

    Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino , Torino, Piemonte, Italy

    Papers in Europe PMC
  5. 05
    Comi G8 papers · 2022

    Neuromuscular and Rare Disease Unit, La Fondazione IRCCS Ca’ Granda Ospedale Maggiore di Milano Policlinico , Milano, Italy

    Papers in Europe PMC
  6. 06
    Filosto M8 papers · 2022

    ERN-EURO NMD Center for Neuromuscular Diseases and Unit of Neurology, Azienda Ospedaliera Spedali Civili di Brescia , Brescia, Lombardia, Italy

    Papers in Europe PMC
  7. 07
    Fiorillo C8 papers · 2022

    Pediatric Neurology and Muscle Disease Unit

    Papers in Europe PMC
  8. 08
    Kang PB8 papers · 2022

    Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA; Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, MN 55455, USA. Electronic address: pkang@umn.edu.

    Papers in Europe PMC
  9. 09
    Bertini E7 papers · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS , Rome, Italy

    Papers in Europe PMC
  10. 10
    D’Amico A7 papers · 2022

    Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS , Rome, Italy

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 181 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

181 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

181

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" OR "EMARDD" OR "MEGF10 myopathy" OR "MEGF10-related myopathy" OR "congenital myopathy 10A, severe variant"

Run this search on Europe PMC

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

"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" OR "EMARDD" OR "MEGF10 myopathy" OR "MEGF10-related myopathy" OR "congenital myopathy 10A, severe variant" OR "MEGF10"

Recall-expansion terms: MEGF10

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

Parent-category trials query:

"myopathy"

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

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 2026-07-27T16:17:30.985Z