BACKGROUND Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles. To date, the role of aquaporin-4 water channel in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy has not been studied. C...

The most common cause of adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome is a benign ACTH-producing pituitary tumour or, less frequently, ectopic ACTH production from non-pituitary tumours. Ectopic occurs more commonly in men and usually presents after 40 years. It associated with small cell lung cancer. Although this severe hypercortisolemia, some findings syndrome, such as cen...

Bckground: Myositis has been reported to be associated or triggered by viruses. Genetic and environmental factors are documented risk for myopathies. Viruses have also shown modify the clinical course of auto-immune diseases.We therefore report a case SARS-Cov-2 infection in 26-year-old female black Zambian patient with proximal myopathy.
 Case Presentation: We present 26-yearold chemical ...

Myopathy and neuropathy that have been induced by colchicine have been described only occasionally, although colchicine is a widely used drug. We describe a case of colchicine-induced myopathy and neuropathy in an 84-year-old woman who had renal impairment. Results from a muscle biopsy showed characteristic vacuolar myopathy and autophagic vacuoles. The cessation of medication resulted in a mar...

31P Magnetic Resonance Spectroscopy (MRS) is a potent tool allowing the investigation of muscle energetics in a noninvasive manner in humans. This review details the contribution of 31P MRS to the diagnosis of metabolic myopathies and provides some clues for the use of this technique in a clinical perspective. Finally, the contribution of 31P MRS to our understanding of the physiopathology of s...

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This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...

Nemaline myopathy, the most common non-dystrophic congenital myopathy, is caused by mutations in six genes, all of which encode thin-filament proteins, including NEB (nebulin) and TPM3 (α tropomyosin). In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in p...

Sir, We read with interest the article by Ahmed published in the SQUMJ February 2015 issue.1 The author reports an eight-year-old male weighing 25 kg who developed myopathy with carnitine deficiency after valproate therapy.1 This case is not the only one of its kind; Kasturi et al. reported a similar case in 2005 of a four-year-old boy developing neurocysticercosis proximal muscle weakness and ...