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ORPHA:268

Dysferlin-related limb-girdle muscular dystrophy R2

high confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2B · Dysferlin-related LGMD R2 · LGMD due to dysferlin deficiency · LGMD type 2B · LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency · Limb-girdle muscular dystrophy type 2B

Publications

906

88.6th percentile

Trials

3

Interventional, condition-specific

Researchers

1,283

Distinct authors in sample

Gene link

DYSF

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb-girdle muscular characterized by an onset in late adolescence or early adulthood of slowly , proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

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 (6)

DYSF autosomal recessive limb-girdle muscular dystrophy · LGMD3 · autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF · limb-girdle muscular dystrophy due to dysferlin deficiency · limb-girdle muscular dystrophy type 2B · muscular dystrophy, limb-girdle, autosomal recessive 2

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

    Strong — DYSF

  2. LiteraturePresent

    906 matched papers (421 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

    3 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?

Yes — we know a specific gene responsible (DYSF).

GenCC classification: Strong.

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?

906

906 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.

906 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).

421 in the last 10 years · high confidence · 88.6th percentile (publications denominator)

Phrase hits: 906 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,283

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
    Bernatchez P10 papers · 2026

    Centre for Heart Lung Innovation, St. Paul's Hospital, Vancouver, BC, Canada.

    Papers in Europe PMC
  2. 02
    Yokota T10 papers · 2025

    Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada; The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada. Electronic address: toshifum@ualberta.ca.

    Papers in Europe PMC
  3. 03
    White Z8 papers · 2025

    University of British Columbia (UBC), Department of Anesthesiology, Pharmacology & Therapeutics, Vancouver, Canada.

    Papers in Europe PMC
  4. 04
    Li J7 papers · 2025

    Affiliated Cancer Hospital and Institute of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  5. 05
    Spuler S6 papers · 2026

    Charite Muscle Research Unit, Experimental and Clinical Research Center, A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany.

    Papers in Europe PMC
  6. 06
    Straub V6 papers · 2026

    The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Angelini C5 papers · 2025

    Neuromuscular Center, Campus Pietro d'Abano, University of Padova, Padua. corrado.angelini@unipd.it.

    Papers in Europe PMC
  8. 08
    Jaiswal JK5 papers · 2022

    1] Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA [2] Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Maruyama R5 papers · 2025

    Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

    Papers in Europe PMC
  10. 10
    Nagaraju K5 papers · 2022

    1] Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC, USA [2] Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 23 trials are registered for limb-girdle muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

high confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Broader category: limb-girdle muscular dystrophy

23

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

Observational and natural-history studies

5 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.

"Dysferlin-related limb-girdle muscular dystrophy R2" OR "Autosomal recessive limb-girdle muscular dystrophy type 2B" OR "Dysferlin-related LGMD R2" OR "LGMD due to dysferlin deficiency" OR "LGMD type 2B" OR "LGMD2B" OR "Limb-girdle muscular dystrophy due to dysferlin deficiency" OR "Limb-girdle muscular dystrophy type 2B" OR "DYSF autosomal recessive limb-girdle muscular dystrophy" OR "LGMD3" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" OR "muscular dystrophy, limb-girdle, autosomal recessive 2"

Run this search on Europe PMC

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

"Dysferlin-related limb-girdle muscular dystrophy R2" OR "Autosomal recessive limb-girdle muscular dystrophy type 2B" OR "Dysferlin-related LGMD R2" OR "LGMD due to dysferlin deficiency" OR "LGMD type 2B" OR "LGMD2B" OR "Limb-girdle muscular dystrophy due to dysferlin deficiency" OR "Limb-girdle muscular dystrophy type 2B" OR "DYSF autosomal recessive limb-girdle muscular dystrophy" OR "LGMD3" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" OR "muscular dystrophy, limb-girdle, autosomal recessive 2" OR "DYSF"

Recall-expansion terms: DYSF

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

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 2026-07-26T13:08:14.297Z