ReviewJournal of neuromuscular diseases2026
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?
Review in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionLimb-Girdle Muscular Dystrophies (LGMDs) are heterogeneous inherited disorders with no cure, including 29 recessive (LGMDR) and 5 dominant forms (LGMDD), characterized by proximal muscle weakness. Finding a cure for LGMD is difficult due to the their slow evolution for which comprehensive data collection through registries, network, and natural history studies is pivotal.
methodsWe conducted a review following PRISMA guidelines searching in PubMed, Scopus, and Web of Science for articles published between 2000-2025, focusing on LGMD registries, networks, and natural history studies. We included observational studies, cohort designs, and registry-based studies.
resultsAmong 443 records, 38 studies were included, 10 registries, 4 networks, and 17 natural history studies respectively. Registries varied in scope, with many focused on specific LGMD subtypes. Natural history studies were predominantly subtype-specific, poorly linked to registries. Only 12 studies were connected to registries or networks, and most performed in Europe and North America. DISCUSSION: Registries, networks, and natural history studies showed considerable design variability, leading to challenges with data interoperability and underscoring the need for standardization. Despite regional coverage, low-income countries are underrepresented in the data. The limited linkage between natural history studies and registries presents a missed opportunity to leverage well-characterized cohorts. Many registries and networks remain unpublished, limiting available data for global research.
conclusionRegistries are crucial, benefiting patients, clinicians, researchers, and industries. The scarcity of natural history studies hinders the development of centralized datasets. Standardizing registry design, improving data interoperability, and enhancing patient diversity are critical to boost LGMD research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.