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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

2,796

90.1th percentile

Trials

2

Interventional, condition-specific

Researchers

1,283

Distinct authors in sample

Gene link

DYSF

Strong

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — DYSF

  2. LiteraturePresent

    2,796 matched papers (1,785 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Hyperlordotic gait; Elevated circulating creatine kinase activity; Lower limb muscle weakness) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 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)

43

Associated phenotypes · MONDO:0009676

  • Hyperlordotic gait
  • Elevated circulating creatine kinase activity
  • Lower limb muscle weakness
  • Proximal lower limb muscle weakness
  • Diminished deep tendon reflex

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0009676

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,796

2,796 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=3967) is 59.

2,796 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,785 in the last 10 years · high confidence · 90.1th 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?

2

interventional trials for this specific condition

2 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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

4 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Dysferlin-related limb-girdle muscular dystrophy R2 — check Associations / patient organisations on that page.

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") OR ("DYSF" OR "DYSF syndrome" OR "DYSF-related")

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"

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: 2 interventional · 4 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; 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 2026-07-26T13:08:14.297Z