ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2018
The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.Journal of neuromuscular diseases · 2022Pooled it
- CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.PloS one · 2019Pooled it
- Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.Neurology. Genetics · 2026Article
- Limb-girdle muscular dystrophy type R2 manifesting as fetal growth restriction in a woman with two pregnancies: a case report.Gynecology and pelvic medicine · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- Epidemiology, disease burden and costs of Duchenne muscular dystrophy in Germany: an observational, retrospective health claims data analysis.Orphanet journal of rare diseases · 2025Observational
- Profiles of Monocyte Subsets and Fibrosis-Related Genes in Patients with Muscular Dystrophy Undergoing Intermittent Prednisone Therapy.International journal of molecular sciences · 2025Article
- From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Muscular Dystrophies.Advances in experimental medicine and biology · 2025Review
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene.International medical case reports journal · 2025Article
- Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.International journal of molecular sciences · 2024Review
- A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.BMC medical genomics · 2024Article
- Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.Arquivos de neuro-psiquiatria · 2023Review
- Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.Molecular therapy. Nucleic acids · 2023Article
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Concept Elicitation Interviews and Conceptual Model to Understand the Patient Experience of Limb Girdle Muscular Dystrophy.Advances in therapy · 2023Article
- Defective BVES-mediated feedback control of cAMP in muscular dystrophy.Nature communications · 2023Article
- Systemic γ-sarcoglycan AAV gene transfer results in dose-dependent correction of muscle deficits in the LGMD 2C/R5 mouse model.Molecular therapy. Methods & clinical development · 2023Article
- Targeted next-generation sequencing determined a novelClinical case reports · 2023Article
- Novel mutations in theFrontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There has been an ever-expanding list of the Limb-Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal recessive (AR) LGMD. Despite continued research efforts to conquer this group of genetic neuromuscular disease, patients continue to be treated symptomatically with the aim of prevention or addressing complications. Mouse models have been helpful in clarifying disease pathogenesis as well as strategizing pathways for treatment. Discoveries in translational research as well as molecular therapeutic approaches have kept clinicians optimistic that more promising clinical trials will lead the way to finding the cure for these devastating disorders. It is well known that the challenge for these rare diseases is the ability to assemble adequate numbers of patients for a clinically meaningful trial, but current efforts in developing patient registries have been encouraging. Natural history studies will be essential in establishing and interpreting the appropriate outcome measures for clinical trials. Nevertheless, animal studies continue to be key in providing proof of concept that will be necessary in moving research along. This review will briefly discuss each type of LGMD, highlighting their distinguishing features, then focus on research efforts that have been published in the literature for the past few years, many of which are still in the preclinical trial stage.
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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.