Muscle diseases or myopathies have heterogeneous clinical presentations and etiologies. The principal sign is muscular weakness, whose distribution can help diagnostic orientation. Exercise intolerance, even without weakness at rest, can indicate an underlying myopathy. An isolated CK elevation can have multiple causes, but its persistence after a period of rest can point towards a subclinical myopathy. Isolated myalgia, especially at rest, are usually not associated with muscle disease. If the suspicion of myopathy is high, the patient will be assessed by a neurologist trained in muscle disorders, with correlation of clinical and neurophysiological findings, muscle imaging and, if indicated, muscle biopsy and genetic analysis. Cardiac and respiratory assessments are mandatory if a myopathy is suspected.
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http://dx.doi.org/10.53738/REVMED.2022.18.779.799 | DOI Listing |
BMJ Case Rep
December 2024
Internal medicine, Canakkale Onsekiz Mart Universitesi Tip Fakultesi, Canakkale, Canakkale, Turkey.
Although hydatid cyst, caused by , can develop in any part of the body, involvement of the liver and lung represents approximately 90% of all cases. Involvement of the musculoskeletal system is comparatively rare. Diagnosis is difficult because symptoms are non-specific.
View Article and Find Full Text PDFIntroduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.
Methods: In this study, we investigated the allele frequency of the c.
J Gen Physiol
March 2025
University Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5261, INSERM U-1315, Institut NeuroMyoGène - Pathophysiology and Genetics of Neuron and Muscle , Lyon, France.
The potential pathogenic role of disturbed Ca2+ homeostasis in Duchenne muscular dystrophy (DMD) remains a complex, unsettled issue. We used muscle fibers isolated from 3-mo-old DMDmdx rats to further investigate the case. Most DMDmdx fibers exhibited no sign of trophic or morphology distinction as compared with WT fibers and mitochondria and t-tubule membrane networks also showed no stringent discrepancy.
View Article and Find Full Text PDFEur J Orthop Surg Traumatol
December 2024
Addenbrooke's Hospital, Cambridge, UK.
Purpose: Crush injuries result from the physical compression of muscles and may lead to crush syndrome. Early fluid resuscitation and surgical intervention is key. Few studies have reported the outcomes of crush injuries in the non-disaster setting.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
School of Medicine, Bahir Dar University, Bahir Dar, Amhara, Ethiopia.
Introduction: Echinococcus granulosus, a tapeworm, is responsible for causing hydatid disease. Hydatid cysts rarely affect the musculoskeletal system, occurring in less than 5% of cases. This case report presents the clinical presentation, diagnosis, and management of muscle echinococcosis.
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