Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Laminin alpha-2-related muscular dystrophy ( LAMA2 -MD), caused by mutations in the LAMA2 gene, is inherited in an autosomal recessive manner. There is no known association of LAMA2 -MD with cancer predisposition. We present a 4-year-old female with LAMA2 -MD and Children's Oncology Group stage III diffuse anaplastic Wilms tumor (DAWT). Given our patient's comorbidities, it was essential to tailor her adjuvant chemotherapy by omitting vincristine and doxorubicin to avoid the potential worsening of her neuromuscular dysfunction and cardiomyopathy. This report illustrates the sporadic occurrence of 2 rare events in our patient and highlights the successful risk-adapted management of DAWT based on the pathophysiology of LAMA2 -MD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243173 | PMC |
| http://dx.doi.org/10.1097/MPH.0000000000002503 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exon-Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.
Methods Mol Biol
July 2025
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Phosphorodiamidate morpholino oligomer (PMO)-mediated exon-skipping is among the more promising approaches available for the treatment of several neuromuscular disorders, including Duchenne muscular dystrophy. The main weakness of this treatment arises from the low efficiency and sporadic nature of the delivery of neutrally charged PMOs into muscle fibres, the mechanism of which is unknown. Recently, using wild-type and dystrophic mdx52 mice, we showed that muscle fibres took up PMOs more efficiently during myotube formation.
View Article and Find Full Text PDFStructural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.
J Biomol Struct Dyn
November 2024
Department of Biosciences, Jamia Millia Islamia, New Delhi, India.
Clinical phenotypic presentations associated with LAMA2 deficiency have shown a variety of manifestations. LAMA2 mutations are mainly linked to congenital muscular dystrophy, but there is also mounting evidence suggesting their presence in inflammatory breast cancer, laryngopharyngeal squamous cell carcinoma, and ventricular tachycardia related to coronary artery disease and cardiomyopathy. This study examined the structural and functional impacts of 144 non-synonymous single nucleotide polymorphisms (nsSNPs) within the LAMA2 gene.
View Article and Find Full Text PDFA 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.
BMC Neurol
October 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.
View Article and Find Full Text PDFAn international retrospective early natural history study of LAMA2-related dystrophies.
J Neuromuscul Dis
November 2024
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Background: LAMA2-related dystrophies (LAMA2-RDs) represent one of the most common forms of congenital muscular dystrophy and have historically been classified into two subtypes: complete or partial deficiency of laminin-211 (merosin). Patients with LAMA2-RD with the typical congenital phenotype manifest severe muscle weakness, delayed motor milestones, joint contractures, failure to thrive, and progressive respiratory insufficiency.
Objective: While a comprehensive prospective natural history study has been performed in LAMA2-RD patients over 5 years of age, the early natural history of patients with LAMA2-RD 5 years and younger has not been comprehensively characterized.
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
J Neuromuscul Dis
September 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Background: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.
Objective: The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.