Publications by authors named "N Witting"
Introduction/aims: Primary hypokalemic periodic paralysis (HypoPP) can present with periodic paralysis and/or permanent muscle weakness. Permanent weakness is accompanied by fat replacement of the muscle. It is unknown whether the permanent muscle weakness is solely due to fat replacement or if other factors affect the ability of the remaining muscle fibers to contract.
View Article and Find Full Text PDFBackground: Early detection and diagnosis of myasthenia gravis (MG) is important to improve the chance of remission and overall prognosis. This study aims to investigate the factors affecting the diagnostic delay of MG thereby highlighting the challenges in the diagnostic process.
Methods: We conducted a retrospective study examining characteristics and factors involved in the diagnostic process of MG.
Article Synopsis
- Primary hypokalemic periodic paralysis (HypoPP) is a muscle condition that causes episodes of paralysis and can lead to permanent muscle weakness; understanding its natural progression could help in treatment evaluation.* -
- A study examined 37 individuals with HypoPP using MRI to measure fat replacement in muscles and strength tests to track changes over 20 months, revealing increased fat in many muscles but no significant muscle strength changes.* -
- The findings suggest that MRI is an effective tool for detecting subclinical progression of HypoPP, helping to assess disease progression in both symptomatic and asymptomatic patients.*
Nemaline myopathy (NM) is a genetic muscle disease, primarily caused by mutations in the NEB gene (NEB-NM) and with muscle myosin dysfunction as a major molecular pathogenic mechanism. Recently, we have observed that the myosin biochemical super-relaxed state was significantly impaired in NEB-NM, inducing an aberrant increase in ATP consumption and remodelling of the energy proteome in diseased muscle fibres. Because the small-molecule Mavacamten is known to promote the myosin super-relaxed state and reduce the ATP demand, we tested its potency in the context of NEB-NM.
View Article and Find Full Text PDFThe aim of this study was to evaluate clinical and serological differences between the ocular myasthenia gravis (oMG) and generalized MG (gMG). This study is a retrospective chart review, in which data was collected from patients fulfilling 2 of 3 diagnostic MG criteria (positive antibodies, evidence of neuromuscular transmission defect on neurophysiological examination, positive effect of pyridostigmine treatment). 350 patients were included and data concerning demographics and MG medical history were collected.
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