Purpose Of Review: This review aims to outline the utility of cardiac magnetic resonance (CMR) in patients with different types of muscular dystrophies for the assessment of myocardial involvement, risk stratification and in guiding therapeutic decisions.
Recent Findings: In patients suffering from muscular dystrophies (MD), even mild initial dysfunction may lead to severe heart failure over a time course of years. CMR plays an increasing role in the diagnosis and clinical care of these patients, mostly due to its unique capability to precisely characterize subclinical and progressive changes in cardiac geometry, function in order to differentiate myocardial injury it allows the identification of inflammation, focal and diffuse fibrosis as well as fatty infiltration. CMR may provide additional information in addition to the physical examination, laboratory tests, ECG, and echocardiography. Further trials are needed to investigate the potential impact of CMR on the therapeutic decision-making as well as the assessment of long-term prognosis in different forms of muscular dystrophies. In addition to the basic cardiovascular evaluation, CMR can provide a robust, non-invasive technique for the evaluation of subclinical myocardial tissue injury like fat infiltration and focal and diffuse fibrosis. Furthermore, CMR has a unique capability to detect the progression of myocardial tissue damage in patients with a preserved systolic function.
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http://dx.doi.org/10.1007/s11897-021-00521-2 | DOI Listing |
BMC Genomics
January 2025
Zhanjiang Experimental Station, Chinese Academy of Tropical Agricultural Sciences, Zhanjiang, 524013, China.
Background: The Leizhou Black Goat (LZBG), a prominent breed in tropical China's meat goat industry, frequently exhibits inherent muscle atrophy and malnutrition-related traits. Particularly, muscles critical for support, such as the legs, often display severe symptoms. This study aimed to investigate the differential genes and signaling pathways influencing muscle development and atrophy across various muscle locations in LZBG from a muscular atrophy-affected family.
View Article and Find Full Text PDFFront Mol Neurosci
January 2025
Interdisciplinary Centre for Innovations in Biotechnology and Neuroscience, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, Sri Lanka.
Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been made in the fields of genetics and transcriptomics, there is a need for proteomics and metabolomics studies. The present study aimed to be the first to document serum metabolic signatures of MDs (DMD, BMD, and LGMD 2A) SCAs (SCA 1-3), from a South Asian perspective.
View Article and Find Full Text PDFSci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDFBiochem Pharmacol
January 2025
Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy,. Electronic address:
Sarcoglycanopathies are rare forms of severe muscular dystrophies currently without a therapy. Mutations in sarcoglycan (SG) genes cause the reduction or absence of the SG-complex, a tetramer located in the sarcolemma that plays a protective role during muscle contraction. Missense mutations in SGCA, which cause α-sarcoglycanopathy, otherwise known as LGMD2D/R3, lead to folding defective forms of α-SG that are discarded by the cell quality control.
View Article and Find Full Text PDFJ Neuroeng Rehabil
January 2025
Department of BioMechanical Engineering, Delft University of Technology, Mekelweg 2, Delft, 2628 CD, South-Holland, The Netherlands.
Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.
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