Publications by authors named "G Remiche"
Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect.
View Article and Find Full Text PDFEarly-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
J Neuromuscul Dis
July 2024
Dominant mutations in CACNA1S gene mainly causes hypokalemic periodic paralysis (PP)(hypoPP). A 68-year-old male proband developed a progressive proximal weakness from the age of 35. Muscle biopsy showed atrophic fibers with vacuoles containing tubular aggregates.
View Article and Find Full Text PDFArticle Synopsis
- - International guidelines for myasthenia gravis (MG) exist, but a group of Belgian experts provides tailored recommendations specifically for managing MG in Belgium, focusing on both generalized (gMG) and ocular myasthenia gravis (oMG).
- - Treatment strategies are based on the efficacy of different therapies, their approval and reimbursement status in Belgium, everyday clinical practices, and the authors' personal experiences, reflecting the latest knowledge as of February 2024.
- - The publication also covers important factors for MG management, including handling comorbidities, avoiding drugs that worsen symptoms, considerations for pregnant patients, vaccination, and a forward-looking perspective on potential new treatments in the future.
Background And Purpose: Because Becker muscular dystrophy (BMD) is a heterogeneous disease and only few studies have evaluated adult patients, it is currently still unclear which outcome measures should be used in future clinical trials.
Methods: Muscle magnetic resonance imaging, patient-reported outcome measures and a wide range of clinical outcome measures, including motor function, muscle strength and timed-function tests, were evaluated in 21 adults with BMD at baseline and at 9 and 18 months of follow-up.
Results: Proton density fat fraction increased significantly in 10/17 thigh muscles after 9 months, and in all thigh and lower leg muscles after 18 months.
Introduction: We describe the first case of acute flaccid myelitis (AFM) related to enterovirus D68 (EV-D68) infection in Belgium. The clinical and radiological presentation of AFM associated with EV-D68 although well described currently remains a challenging diagnosis. Through this interesting clinical case, we aimed to review the differential diagnosis of acute flaccid palsy in a child and discuss the specific point of interest related to AFM.
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