Becker's disease is an inherited muscular dystrophy caused by mutations in the gene coding for the dystrophin protein that leads to quantitative and/or qualitative protein dysfunction and consequent muscle degeneration. Studies in animal models demonstrate that, while eccentric or high-intensity training are deleterious for dystrophic muscles, low-intensity aerobic training may slowdown the disease process and progression. Based on these preclinical data, the available studies in patients with Becker's muscular dystrophy undergoing workout on a cycle ergometer or on a treadmill, at a heart rate ≤65% of their maximal oxygen uptake, showed that aerobic exercise counteracts physical deterioration and loss of functional abilities. These findings suggest an improvement of physical performance through an increase of muscle strength, fatigue resistance, and dexterity capacities, without substantial evidence of acceleration of muscular damage progression. Therefore, individually tailored mild-to-moderate intensity aerobic exercise should be considered as part of the management of these patients. However, further research is necessary to define specific and standardized guidelines for the prescription of type, intensity, frequency, and duration of motor activities. In this review, we provided a summary of the impact of physical activity both in animal models and in patients with Becker's muscular dystrophy, with the intent to identify trends and gaps in knowledge. The potential therapeutic implications and future research directions have been also highlighted.
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http://dx.doi.org/10.1080/00913847.2019.1684810 | DOI Listing |
Geroscience
January 2025
Department of Physical Medicine and Rehabilitation, University of Missouri, Columbia, MO, USA.
Sarcopenia, the pathological age-related loss of muscle mass and strength, contributes to physical decline, frailty, and diminished healthspan. The impact of sarcopenia is expected to rise as the aging population grows, and treatments remain limited. Therefore, novel approaches for enhancing physical function and strength in older adults are desperately needed.
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January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFNat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFNeuromuscul Disord
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Newcastle Hospitals NHS Foundation Trusts, Newcastle upon Tyne, UK. Electronic address:
Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.
View Article and Find Full Text PDFFEBS J
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
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