Limb-Girdle Muscular Dystrophy — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations.
Cardona Perez Alejandra et al. — JACC. Case reports (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41718518/
- 2.
Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.
Abdel Aleem Asmaa F et al. — Pediatric neurology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41633215/
- 3.
Transgene-induced cardiotoxicity in high-dose AAV gene transfer.
Biquand Ariane et al. — Molecular therapy : the journal of the American Society of Gene Therapy (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41445184/
- 4.
Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy.
Horowitz-Cederboim Smadar et al. — European journal of human genetics : EJHG (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41345255/
- 5.
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.
El-Hayek Stephany et al. — Journal of neuromuscular diseases (29 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41904993/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Phase 2 Study of EDG-5506 in Becker Muscular Dystrophy (GRAND CANYON)
Active (not recruiting) — Phase 2 — Edgewise Therapeutics, Inc.
https://clinicaltrials.gov/study/NCT05291091
- 2.
Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
Active (not recruiting) — Phase 3 — ML Bio Solutions, Inc.
https://clinicaltrials.gov/study/NCT05775848
- 3.
Efficacy and Safety Study of Lenalidomide Plus R-CHOP Chemotherapy Versus Placebo Plus R-CHOP Chemotherapy in Untreated ABC Type Diffuse Large B-cell Lymphoma
Completed — Phase 3 — Celgene
https://clinicaltrials.gov/study/NCT02285062
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Limb-Girdle Muscular Dystrophy
Limb-Girdle Muscular Dystrophy encompasses more than 30 distinct genetic subtypes of progressive muscle disease affecting the shoulder and hip girdles. Symptoms typically begin in childhood or early adulthood and include proximal muscle weakness and wasting, with variable rates of progression. Gene therapy trials are active for several subtypes.
Most Recent Research
BACKGROUND: Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutations may involve both cardiac and skeletal muscle, consistent with limb-girdle muscular dystrophy (LGMD), with cardiac disease sometimes preceding neuromuscular symptoms. CASE SUMMARY: We report on 2 adults presenting with advanced DCM requiring heart transplantation, who were later diagnosed with LGMD. A 22-year-old woman had biallelic FKTN variants, and a 37-year-old man carried a heterozygous LMNA pathogenic variant. Both had elevated creatine kinase prior to proximal muscle weakness. Muscle biopsy and genetic testing confirmed dystrophic processes. DISCUSSION: These cases demonstrate that genetically mediated DCM may initially present as isolated cardiac disease. Early genetic testing can guide transplant planning, long-term care, and family counseling.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.