Background: Coronavirus 2 severe acute respiratory syndrome (SARS-CoV-2), generically called COVID-2019, classified as a pandemic by the World Health Organization, has made health practices around the world face unique challenges. Since then, physical distancing and measures such as confinement have been adopted by different governments to control human-to-human transmission. This distance affected the treatment of individuals with progressive diseases such as neuromuscular diseases (NMDs).
Objective: To identify how patients with NMDs performed the therapeutic routine during social distancing and confinement resulting from the COVID-19 pandemic.
Methods: Application of a questionnaire prepared in the Google forms application, whose link for access and participation was sent by email or WhatssApp for family members and/or individuals with DNMs to respond. The questionnaire consisted of multiple-choice questions, divided into the following sections: personal data, treatments performed before and during the pandemic, activities performed during confinement, and characterization of motor function in activities of daily living comprising the period between September and October 2020.
Results: We observed a significant reduction in medical appointments for patients with NMDs. On the other hand, the results showed that most patients underwent motor and/or respiratory physiotherapy in person or by telemonitoring. The study participants reported spending more time playing indoors, and all pointed out motor changes during social distancing.
Conclusion: There were changes in the therapeutic routine of patients with NMDs during the period of social distancing due to COVID-19.
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http://dx.doi.org/10.1055/s-0042-1755232 | DOI Listing |
Med Sci Monit
December 2024
Department of Anaesthesiology and Intensive Care, Faculty of Medicine, Collegium Medicum University of Warmia and Mazury in Olsztyn, Olsztyn, Poland.
Anesthesia management in neuromuscular diseases (NMDs) is a complex challenge, requiring careful preoperative evaluation, tailored treatment strategies, and vigilant perioperative monitoring. This review examines the nuances of anesthesia in patients with NMD, addressing potential complications such as intubation difficulties, respiratory failure, and adverse effects of anesthetics and neuromuscular conduction blocking agents (NMBAs). Nondepolarizing NMBAs, including steroidal agents and benzylisoquinolines, are analyzed for their role, risks, and optimal use based on procedural requirements and patient characteristics.
View Article and Find Full Text PDFGenes (Basel)
October 2024
Unit of Medical Genetics and Genomics, San Bortolo Hospital, ULSS n.8 "Berica", 36100 Vicenza, Italy.
Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.
View Article and Find Full Text PDFGenomics Inform
November 2024
Department of Pediatrics, Seoul National University Bundang Hospital, 82, Gumi-ro, 173beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 13620, Republic of Korea.
Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS).
View Article and Find Full Text PDFMuscle Nerve
January 2025
Department of Rehabilitation Medicine, University of Washington, Seattle, Washington, USA.
The landscape of care for children and adults with neuromuscular disorders (NMDs) is rapidly changing as more disease-modifying treatments (DMTs) become available. These DMTs provide hope and opportunity for evolving phenotypes, though none (yet) are curative. Rehabilitation has been the standard of care for patients with NMDs and should remain so, even with the advent of novel DMTs.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Department of Medical and Surgical Specialties and Dentistry, University of Campania "Luigi Vanvitelli", Via De Crecchio n. 4, 80138 Naples, Italy.
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