Population-based estimates of survival among individuals with Duchenne muscular dystrophy (DMD) living in the United States are lacking. It is also unclear whether the association between glucocorticoid use and all-cause mortality persists in the context of other common treatments (cardiac medication, cough-assist, bilevel positive airway pressure, and scoliosis surgery) observed to delay mortality. Among 526 individuals identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network, the estimated median survival time from birth was 23.7 years. Current glucocorticoid users had a lower hazard of mortality than non-users. Individuals who ever had scoliosis surgery had a lower hazard of mortality than individuals who did not have scoliosis surgery. Individuals who ever used cough assist had a lower hazard of mortality than individuals who never used cough assist. Non-Hispanic Black individuals had a higher hazard of mortality than non-Hispanic White individuals. No differences in hazards of mortality were observed between ever versus never use of cardiac medication and ever versus never use of bilevel positive airway pressure. The glucocorticoid observation is consistent with the 2018 Care Considerations statement that glucocorticoid use continues in the non-ambulatory phase. Our observations may inform the clinical care of individuals living with DMD.
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http://dx.doi.org/10.1016/j.nmd.2022.04.008 | DOI Listing |
PLoS One
January 2025
Department of Pediatrics, China Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: Short stature is a frequent complication of DMD, and its pathomechanisms and influencing factors are specific to this disease and the idiosyncratic treatment for DMD.
Purpose: To establish the height growth curve of early DMD, and evaluate the potential influencing markers on height growth, provide further evidence for pathological mechanism, height growth management and bone health in DMD.
Methods: A retrospective, cross-sectional study of 348 participants with DMD aged 2-12 years was conducted at West China Second Hospital of Sichuan University from January 2023 to October 2023.
Exp Physiol
January 2025
Department of Physiology, School of Medicine, University College Cork, Cork, Ireland.
Absence of the structural protein, dystrophin, results in the neuromuscular disorder Duchenne Muscular Dystrophy (DMD). In addition to progressive skeletal muscle dysfunction, this multisystemic disorder can also result in cognitive deficits and behavioural changes that are likely to be consequences of dystrophin loss from central neurons and astrocytes. Dystrophin-deficient mdx mice exhibit decreases in grey matter volume in the hippocampus, the brain region that encodes and consolidates memories, and this is exacerbated with ageing.
View Article and Find Full Text PDFCells
December 2024
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37100 Verona, Italy.
Zebrafish () have emerged as a valuable model organism for investigating musculoskeletal development and the pathophysiology of associated diseases. Key genes and biological processes in zebrafish that closely mirror those in humans, rapid development, and transparent embryos make zebrafish ideal for the in vivo studies of bone and muscle formation, as well as the molecular mechanisms underlying musculoskeletal disorders. This review focuses on the utility of zebrafish in modeling various musculoskeletal conditions, with an emphasis on bone diseases such as osteoporosis and osteogenesis imperfecta, as well as muscle disorders like Duchenne muscular dystrophy.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Department of Thoracic Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.
A 44-year-old man with a history of facioscapulohumeral muscular dystrophy and pectus excavatum presented with multiyear history of progressive, severe respiratory dysfunction, pain, recurrent respiratory infection, and chest wall deformity. With bioprosthetic engineers, the surgical team customized a 3-dimensional printed model of a sternal implant interacting with the patient's anatomy. After approval from the Food and Drug Administration, the customized sternal plates were created and implanted in a sternal reconstruction operation.
View Article and Find Full Text PDFJ Cachexia Sarcopenia Muscle
February 2025
Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia, Missouri, USA.
Background: Adeno-associated virus (AAV) 8 and 9 are in clinical trials for treating neuromuscular diseases such as Duchenne muscular dystrophy (DMD). Muscle consists of myofibres of different types and sizes. However, little is known about the fibre type and fibre size tropism of AAV in large mammals.
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