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A 29-year-old woman with muscle weakness at 26 + 5 weeks of pregnancy was hospitalized for heart failure, and genetic testing revealed that she had R9 limb-girdle muscular dystrophy (LGMDR9). Since LGMDR9 is associated with cardiac and respiratory dysfunction, we promoted fetal lung maturation and performed an emergency cesarean section at 29 + 2 weeks to prevent further deterioration of cardiac function and muscle weakness. This case highlights the importance of choosing the right mode of delivery, timing of delivery, and early genetic testing for LGMDR9 patients.
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http://dx.doi.org/10.3389/fmed.2025.1576161 | DOI Listing |
Objective: To characterize the immunophenotypic features of the inflammatory infiltrate cell composition and the morphometric features of muscle fibers in skeletal muscle biopsies from patients with hereditary and inflammatory myopathies, and to develop an integral coefficient to aid in the differential diagnosis of these conditions.
Material And Methods: The material is represented by biopsy specimens of m. tibialis anterior, m.
Eur J Neurol
September 2025
Academic Unit of Neurology, Hospital de Clínicas, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Background: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterized by progressive proximal weakness. LGMD D3 is an extremely rare autosomal dominant myopathy caused by pathogenic variants in the HNRNPDL gene encoding a protein related to RNA processing. To date, only six countries and seven families have been reported worldwide: Brazil, China and Italy with the pathogenic variant c.
View Article and Find Full Text PDFGenes (Basel)
August 2025
Department of Biomedicine, Neuroscience, and Advanced Diagnostic (BIND), University of Palermo, 90129 Palermo, Italy.
Limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies characterized by predominantly proximal-muscle weakness, with a highly heterogeneous genetic etiology. Despite recent efforts, the epidemiology of LGMDs is still under-evaluated. However, a better understanding of the distribution and genetic characteristics of LGMDs is required to optimize the diagnostic process and to address future research.
View Article and Find Full Text PDFBiomedicines
August 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, NHC Key Laboratory of Chronobiology, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Skeletal muscle, constituting ~40% of body mass, serves as a primary effector for movement and a key metabolic regulator through myokine secretion. Hereditary myopathies, including dystrophinopathies (DMD/BMD), limb-girdle muscular dystrophies (LGMD), and metabolic disorders like Pompe disease, arise from pathogenic mutations in structural, metabolic, or ion channel genes, leading to progressive weakness and multi-organ dysfunction. Gene therapy has emerged as a transformative strategy, leveraging viral and non-viral vectors to deliver therapeutic nucleic acids.
View Article and Find Full Text PDFAdv Exp Med Biol
August 2025
Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.
Skeletal muscles remodel and regenerate in response to physiological and pathological conditions. Muscle disorders can be caused by disturbance of molecular and cellular pathways that are important in maintaining muscle homeostasis in response to physiological stimuli and environmental challenges. Muscular dystrophies are a heterogeneous group of rare, progressive diseases involving muscle degeneration and regeneration, with defects and failure in regeneration contributing to muscle loss and functional decline.
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