RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:261

Emery-Dreifuss muscular dystrophy

medium confidenceDisorder

Also known as: EDMD

Publications

5,067

96.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,326

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and .

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 (1)

Emery Dreifuss Muscular Dystrophy

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,067 matched papers (2,920 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 (1 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

5,067

5,067 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.

5,067 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).

2,920 in the last 10 years · medium confidence · 96.3th percentile (publications denominator)

Phrase hits: 5,067 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,326

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
    Bruno C4 papers · 2026

    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  2. 02
    Fiorillo C4 papers · 2026

    Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  3. 03
    Leturcq F4 papers · 2025

    Department of Genomic Medicine and Systemic Diseases, APHP, University of Paris, Cochin Hospital, Paris, France.

    Papers in Europe PMC
  4. 04
    Liu X4 papers · 2026

    Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

    Papers in Europe PMC
  5. 05
    Pini A4 papers · 2026

    IRCCS Istituto delle Scienze Neurologiche di Bologna, 40124 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Nanjing 210096, China.

    Papers in Europe PMC
  7. 07
    Ben Yaou R3 papers · 2025

    APHP-Sorbonne Universite, Centre de Référence des Maladies Neuromusculaires, Inserm, Centre de Recherche en Myologie, Institut de Myologie, Hopital Pitie-Salpetriere, Paris, France.

    Papers in Europe PMC
  8. 08
    Bonne G3 papers · 2026

    Sorbonne University, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.

    Papers in Europe PMC
  9. 09
    Cavallo M3 papers · 2026

    Shoulder-Elbow Surgery Unit, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Fan H3 papers · 2026

    Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou, 310029, China.

    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; 1 currently recruiting in our sample.

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).

medium 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.

Observational and natural-history studies

1 observational study matches 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

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase

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.

"Emery-Dreifuss muscular dystrophy" OR "Emery Dreifuss Muscular Dystrophy"

Run this search on Europe PMC

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

"Emery-Dreifuss muscular dystrophy" OR "Emery Dreifuss Muscular Dystrophy"

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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EDMD

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 2026-07-26T13:06:57.519Z