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ORPHA:353

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

high confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2C · Gamma-sarcoglycan-related LGMD R5 · Gamma-sarcoglycanopathy · LGMD due to gamma-sarcoglycan deficiency · LGMD type 2C · LGMD2C · Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency · Limb-girdle muscular dystrophy type 2C

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

Publications

497

76.3th percentile

Trials

3

Interventional, condition-specific

Researchers

1,337

Distinct authors in sample

Gene link

SGCG

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb-girdle muscular characterized by a childhood onset of shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

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 (10)

DMDA1 · Maghrebian myopathy · SCARMD · SGCG autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG · autosomal recessive limb-girdle muscular dystrophy type 2C · gamma-sarcoglycanopathy · limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency · muscular dystrophy, limb-girdle, autosomal recessive 5 · muscular dystrophy, limb-girdle, type 2C

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 — SGCG

  2. LiteraturePresent

    497 matched papers (174 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 (SGCG).

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?

497

497 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

497 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).

174 in the last 10 years · high confidence · 76.3th percentile (publications denominator)

Phrase hits: 497 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,337

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
    McNally EM13 papers · 2025

    Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston 02115, USA.

    Papers in Europe PMC
  2. 02
    Angelini C9 papers · 2025

    From the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.

    Papers in Europe PMC
  3. 03
    Vainzof M7 papers · 2021

    Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  4. 04
    Demonbreun AR6 papers · 2019

    Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

    Papers in Europe PMC
  5. 05
    Heydemann A6 papers · 2023

    Department of Physiology and Biophysics, The University of Illinois at Chicago, Chicago, IL 60612, USA ; Center for Cardiovascular Research, The University of Illinois at Chicago, Chicago, IL 60612, USA.

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

    Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom. volker.straub@ncl.ac.uk

    Papers in Europe PMC
  7. 07
    Yokota T6 papers · 2025

    Department of Medical Genetics, University of Alberta, Canada.

    Papers in Europe PMC
  8. 08
    Zatz M6 papers · 2021

    Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  9. 09
    Wang Z5 papers · 2022

    Department of Neurology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  10. 10
    Xie Z5 papers · 2022

    Department of Neurology, Peking University First Hospital, Beijing, China.

    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. 22 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

22

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

2 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.

"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5" OR "Autosomal recessive limb-girdle muscular dystrophy type 2C" OR "Gamma-sarcoglycan-related LGMD R5" OR "Gamma-sarcoglycanopathy" OR "LGMD due to gamma-sarcoglycan deficiency" OR "LGMD type 2C" OR "LGMD2C" OR "Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2C" OR "DMDA1" OR "Maghrebian myopathy" OR "SCARMD" OR "SGCG autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" OR "muscular dystrophy, limb-girdle, autosomal recessive 5" OR "muscular dystrophy, limb-girdle, type 2C"

Run this search on Europe PMC

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

"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5" OR "Autosomal recessive limb-girdle muscular dystrophy type 2C" OR "Gamma-sarcoglycan-related LGMD R5" OR "Gamma-sarcoglycanopathy" OR "LGMD due to gamma-sarcoglycan deficiency" OR "LGMD type 2C" OR "LGMD2C" OR "Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" OR "Limb-girdle muscular dystrophy type 2C" OR "DMDA1" OR "Maghrebian myopathy" OR "SCARMD" OR "SGCG autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" OR "muscular dystrophy, limb-girdle, autosomal recessive 5" OR "muscular dystrophy, limb-girdle, type 2C" OR "SGCG"

Recall-expansion terms: SGCG

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: 3 interventional · 2 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 2026-07-26T13:31:28.159Z