The results of three cases with infantile-onset Pompe disease participating in a rehabilitation program with home-based vibration training will be presented. In this retrospective observational case study, the cases participated in the neuromuscular training program "Auf die Beine", which combines two blocks of intensive, goal directed training with 6 months of home-based whole body vibration (WBV). Assessments by the means of a dual-energy X-ray absorptiometry and grip strength were applied at multiple points throughout the program. Two cases showed an increase in lean mass index of +0.319 kg/m, +0.721 kg/m and bone mineral content of +0.028 kg/m, +0.031 kg/m over one year. Additionally physiotherapeutic therapy goals could be achieved. In the remaining child lean mass index did not change, bone mineral content decreased by -0.03 kg. The neuromuscular rehabilitation program "Auf die Beine" has shown to be safe and effective in two of three cases for muscle and bone mass gain as well as in achievement of physiotherapeutic goals. To summarize, WBV is an innovative therapy in a rehabilitation concept, which might be helpful in Pompe disease, but further studies with larger cohorts are needed.
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BMC Musculoskelet Disord
December 2024
Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation.
Aims: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease.
Semin Respir Crit Care Med
December 2024
Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio.
Neuromuscular disorders can cause respiratory impairment by affecting the muscle fibers, neuromuscular junction, or innervation of respiratory muscles, leading to significant morbidity and mortality. Over the past few years, new disease-modifying therapies have been developed and made available for treating different neuromuscular disorders. Some of these therapies have remarkable effectiveness, resulting in the prevention and reduction of respiratory complications.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Cardiology, Clinical and Molecular Medicine Department, Sapienza University of Rome, 00189 Rome, Italy.
For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.
View Article and Find Full Text PDFBackground: Lysosomal storage diseases (LSDs) can be treated with intravenous enzyme replacement therapy (ERT). ERT is being administered either in specialized clinics or in the home care setting. Studies indicate that home-based ERT can be considered safe and positively effects patient reported outcomes.
View Article and Find Full Text PDFFront Genet
November 2024
Sanofi Global Medical Affairs Rare Diseases, Sanofi, Cambridge, MA, United States.
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