ORPHA:1878
TRIM32-related limb-girdle muscular dystrophy R8
Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD due to TRIM32 deficiency · LGMD type 2H · LGMD2H · Limb-girdle muscular dystrophy due to TRIM32 deficiency · Limb-girdle muscular dystrophy type 2H · Sarcotubular myopathy · TRIM32-related LGMD R8
Clinical definition (Orphanet)
A mild subtype of limb girdle muscular characterized by slowly proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
264
264 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=183) is 38.
264 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
104 in the last 10 years · high confidence · 67.2th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 24 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 26 July 2026
24
trials for limb-girdle muscular dystrophy, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (TRIM32).
GenCC classification: Definitive.
Who's working on it?
1,164
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Spencer MJ9 papers · 2024
Department of Neurology, University of California, Los Angeles, California.
Papers in Europe PMC - 02Wrogemann K8 papers · 2012Papers in Europe PMC
- 03Meroni G7 papers · 2026
Department of Life Sciences, University of Trieste and Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: gmeroni@units.it.
Papers in Europe PMC - 04Geisbrecht ER6 papers · 2021
Department of Biochemistry and Molecular Biophysics, Kansas State University, Manhattan, KS, 66506, USA. geisbrechte@ksu.edu.
Papers in Europe PMC - 05Kudryashova E6 papers · 2015
Department of Neurology, Center for Duchenne Muscular Dystrophy at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, California 90095-1606, USA.
Papers in Europe PMC - 06Di Rienzo M5 papers · 2024
Department of Epidemiology, Preclinical Research and Advanced Diagnostics, National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy.
Papers in Europe PMC - 07Fimia GM5 papers · 2024
Department of Epidemiology, Preclinical Research and Advanced Diagnostics, National Institute for Infectious Diseases IRCCS 'L. Spallanzani', Rome, Italy. gianmaria.fimia@inmi.it.
Papers in Europe PMC - 08Frosk P5 papers · 2006
Department of Biochemistry, University of Manitoba, Winnipeg, Canada.
Papers in Europe PMC - 09Greenberg CR5 papers · 2016
Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; The Manitoba Institute of Child Health513-715 McDermot Ave.WinnipegMB R3E 3P4Canada.
Papers in Europe PMC - 10Lazzari E5 papers · 2026
Department of Life Sciences, University of Trieste and Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
24 interventional trials matched limb-girdle muscular dystrophy, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
Observational and natural-history studies
1 observational study matches 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
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 2026-07-26This 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 below but are not added to the query string.
"TRIM32-related limb-girdle muscular dystrophy R8" OR "Autosomal recessive limb-girdle muscular dystrophy type 2H" OR "LGMD due to TRIM32 deficiency" OR "LGMD type 2H" OR "LGMD2H" OR "Limb-girdle muscular dystrophy due to TRIM32 deficiency" OR "Limb-girdle muscular dystrophy type 2H" OR "Sarcotubular myopathy" OR "TRIM32-related LGMD R8" OR "TRIM32 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" OR "muscular dystrophy, limb-girdle, autosomal recessive 8"
MeSH descriptor terms unioned into the query: Limb-girdle muscular dystrophy type 2H
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"TRIM32-related limb-girdle muscular dystrophy R8" OR "Autosomal recessive limb-girdle muscular dystrophy type 2H" OR "LGMD due to TRIM32 deficiency" OR "LGMD type 2H" OR "LGMD2H" OR "Limb-girdle muscular dystrophy due to TRIM32 deficiency" OR "Limb-girdle muscular dystrophy type 2H" OR "Sarcotubular myopathy" OR "TRIM32-related LGMD R8" OR "TRIM32 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" OR "muscular dystrophy, limb-girdle, autosomal recessive 8" OR "TRIM32" OR "autosomal recessive limb-girdle muscular dystrophy"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C535897 OMIM:254110 UMLS:C0270968
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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