Duchenne muscular dystrophy is the most common inherited neuromuscular disease in children. In addition to the progressive loss of motor skills and cardiac involvement, respiratory muscle weakness leads to a restrictive lung disease and cough insufficiency. Specific respiratory interventions have significantly improved survival and quality of life of the affected boys. The pediatric pulmonologist's tasks include monitoring of the lung function, polysomnography, starting and adjusting of non-invasive or invasive nocturnal ventilation and optimizing of secretion management. Providing of vaccinations, enhancing of nutrition, treatment of intercurrent infections, and provision of advice and training are important tasks for the pediatric pulmonologist. This article emphasizes on the tasks for the pediatric pulmonologist in the treatment of children with neuromuscular diseases i. e. Duchenne muscular dystrophy in interaction with the other specialist disciplines.
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http://dx.doi.org/10.1055/a-2464-6210 | DOI Listing |
Sleep Breath
January 2025
Division of Respiratory Medicine, Department of Pediatrics, University of California San Diego, Rady Children's Hospital, 9500 Gillman Drive, La Jolla, CA, 92093, USA.
Background: Reduced forced vital capacity (FVC) is associated with morbidity and mortality in individuals with Duchenne muscular dystrophy (DMD). Non-invasive ventilation (NIV) is often prescribed for the treatment of sleep-disordered breathing (SDB), and chronic respiratory insufficiency. Despite the common practice of initiating NIV later in the progression of DMD, the factors influencing FVC subsequent to the commencement of NIV remain unclear.
View Article and Find Full Text PDFBiomedicines
November 2024
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.
: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.
View Article and Find Full Text PDFBiomolecules
December 2024
Department of Chemistry, National and Kapodistrian University of Athens, 15771 Athens, Greece.
Histone deacetylases (HDACs) are enzymes that play an essential role in the onset and progression of cancer. As a consequence, a variety of HDAC inhibitors (HDACis) have been developed as potent anticancer agents, several of which have been approved by the FDA for cancer treatment. However, recent accumulated research results have suggested that HDACs are also involved in several other pathophysiological conditions, such as fibrotic, inflammatory, neurodegenerative, and autoimmune diseases.
View Article and Find Full Text PDFAntioxidants (Basel)
December 2024
Pole of Cardiovascular Research, Institute of Experimental and Clinical Research (IREC), Université Catholique de Louvain (UCLouvain), Avenue Hippocrate 55, 1200 Brussels, Belgium.
Adiponectin (ApN) is a hormone with potent effects on various tissues. We previously demonstrated its ability to counteract Duchenne muscular dystrophy (DMD), a severe muscle disorder. However, its therapeutic use is limited.
View Article and Find Full Text PDFCell Rep Med
December 2024
Laboratory of Precision Nanomedicine, The Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel-Aviv, Israel; Department of Materials Sciences and Engineering, Iby and Aladar Fleischman Faculty of Engineering, Tel Aviv University, Tel Aviv, Israel; Center for Nanoscience and Nanotechnology, Tel Aviv University, Tel Aviv, Israel; Cancer Biology Research Center, Tel Aviv University, Tel Aviv, Israel. Electronic address:
Muscular dystrophies are a group of heterogenic disorders characterized by progressive muscle weakness, the most common of them being Duchenne muscular dystrophy (DMD). Muscular dystrophies are caused by mutations in over 50 distinct genes, and many of them are caused by different genetic mechanisms. Currently, none of these diseases have a cure.
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