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ORPHA:34515

FKRP-related limb-girdle muscular dystrophy R9

high confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2I · FKRP-related LGMD R9 · LGMD due to FKRP deficiency · LGMD type 2I · LGMD2I · Limb-girdle muscular dystrophy due to FKRP deficiency · Limb-girdle muscular dystrophy type 2I

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

Publications

527

83th percentile

Trials

5

Interventional, condition-specific

Researchers

1,316

Distinct authors in sample

Gene link

FKRP

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, , respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.

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 (7)

FKRP autosomal recessive limb-girdle muscular dystrophy · LGMD-FKRP related · MDDGC5 · autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP · limb-girdle muscular dystrophy due to FKRP deficiency · muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5 · muscular dystrophy-dystroglycanopathy (limb-girdle), type C5

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

    Definitive — FKRP

  2. LiteraturePresent

    527 matched papers (268 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

    5 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?

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

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?

527

527 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.

527 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).

268 in the last 10 years · high confidence · 83th percentile (publications denominator)

Phrase hits: 527 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,316

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
    Straub V19 papers · 2025

    John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  2. 02
    Vissing J19 papers · 2026

    Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Denmark.

    Papers in Europe PMC
  3. 03
    Lu QL16 papers · 2025

    McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1000 Blythe Blvd., Charlotte, NC 28203, United States of America.

    Papers in Europe PMC
  4. 04
    Töpf A9 papers · 2025

    John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  5. 05
    Sveen ML8 papers · 2015

    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  6. 06
    Muntoni F7 papers · 2025

    UCL Institute of Child Health, London, UK

    Papers in Europe PMC
  7. 07
    Perlingeiro RCR7 papers · 2026

    Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN, USA; Stem Cell Institute, University of Minnesota, Minneapolis, MN, USA. Electronic address: perli032@umn.edu.

    Papers in Europe PMC
  8. 08
    Azzag K6 papers · 2026

    Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  9. 09
    Blaeser A6 papers · 2025

    McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, 1000 Blythe Blvd., Charlotte, NC 28203, United States of America.

    Papers in Europe PMC
  10. 10
    Bönnemann CG6 papers · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 21 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

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: limb-girdle muscular dystrophy

21

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

7 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.

"FKRP-related limb-girdle muscular dystrophy R9" OR "Autosomal recessive limb-girdle muscular dystrophy type 2I" OR "FKRP-related LGMD R9" OR "LGMD due to FKRP deficiency" OR "LGMD type 2I" OR "LGMD2I" OR "Limb-girdle muscular dystrophy due to FKRP deficiency" OR "Limb-girdle muscular dystrophy type 2I" OR "FKRP autosomal recessive limb-girdle muscular dystrophy" OR "LGMD-FKRP related" OR "MDDGC5" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" OR "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" OR "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5"

Run this search on Europe PMC

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

"FKRP-related limb-girdle muscular dystrophy R9" OR "Autosomal recessive limb-girdle muscular dystrophy type 2I" OR "FKRP-related LGMD R9" OR "LGMD due to FKRP deficiency" OR "LGMD type 2I" OR "LGMD2I" OR "Limb-girdle muscular dystrophy due to FKRP deficiency" OR "Limb-girdle muscular dystrophy type 2I" OR "FKRP autosomal recessive limb-girdle muscular dystrophy" OR "LGMD-FKRP related" OR "MDDGC5" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" OR "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" OR "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5" OR "FKRP"

Recall-expansion terms: FKRP

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: 5 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

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 2026-07-26T23:40:41.522Z