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ORPHA:269

Facioscapulohumeral dystrophy

medium confidenceDisorder

Also known as: FSH dystrophy · FSHD · Facioscapulohumeral muscular dystrophy · Facioscapulohumeral myopathy · Landouzy-Dejerine dystrophy · Landouzy-Dejerine myopathy

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

Publications

4,106

95.8th percentile

Trials

40

Interventional, condition-specific

Researchers

1,220

Distinct authors in sample

Gene link

LRIF1

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuromuscular disease characterized by muscle weakness with focal involvement of the facial, shoulder and limb muscles.

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 (3)

facioscapulohumeral dystrophy · facioscapulohumeral muscular dystrophy · facioscapulohumeral myopathy

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 — LRIF1

  2. LiteraturePresent

    4,106 matched papers (2,368 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

    40 matched on ClinicalTrials.gov (7 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?

Probably — there is moderate evidence for LRIF1.

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?

4,106

4,106 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.

4,106 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).

2,368 in the last 10 years · medium confidence · 95.8th percentile (publications denominator)

Phrase hits: 4,106 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,220

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
    Voermans NC16 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P. O. Box 9101, 6500 HB, Nijmegen, The Netherlands. nicol.voermans@radboudumc.nl.

    Papers in Europe PMC
  2. 02
    van Engelen BGM11 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P. O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Tupler R10 papers · 2026

    Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

    Papers in Europe PMC
  4. 04
    Lin X9 papers · 2026

    Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.

    Papers in Europe PMC
  5. 05
    Mul K9 papers · 2026

    Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Jones PL8 papers · 2026

    Department of Pharmacology, Center for Molecular Medicine, University of Nevada, Reno School of Medicine, 1664 N Virginia St., Reno, NV 89557, USA.

    Papers in Europe PMC
  7. 07
    Sacconi S8 papers · 2026

    Peripheral Nervous System and Muscle Department, Université Côte d'Azur, CHU Nice, Pasteur 2, Nice Hospital, France. sacconi.s@chu-nice.fr.

    Papers in Europe PMC
  8. 08
    Tawil R8 papers · 2026

    Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.

    Papers in Europe PMC
  9. 09
    van der Maarel SM8 papers · 2026

    Department of Human Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

    Papers in Europe PMC
  10. 10
    Jones TI7 papers · 2026

    Department of Pharmacology, Center for Molecular Medicine, University of Nevada, Reno School of Medicine, 1664 N Virginia St., Reno, NV 89557, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

40

interventional trials for this specific condition

40 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 27 July 2026

40 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.6th percentile).

medium confidence · 96.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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.

"Facioscapulohumeral dystrophy" OR "FSH dystrophy" OR "Facioscapulohumeral muscular dystrophy" OR "Facioscapulohumeral myopathy" OR "Landouzy-Dejerine dystrophy" OR "Landouzy-Dejerine myopathy"

Run this search on Europe PMC

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

"Facioscapulohumeral dystrophy" OR "FSH dystrophy" OR "Facioscapulohumeral muscular dystrophy" OR "Facioscapulohumeral myopathy" OR "Landouzy-Dejerine dystrophy" OR "Landouzy-Dejerine myopathy" OR "LRIF1"

Recall-expansion terms: LRIF1

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: 40 interventional · 24 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FSHD

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 2026-07-26T13:08:45.085Z