Results 31 to 40 of about 39,732 (154)
Frontiers in Neurology, 2020 The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia +6 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 11, Page 2679-2692, November 2023., 2023 Abstract Inherited neuromuscular disorders (NMDs) are a large group of genetic conditions characterized by impaired peripheral nerve, motor neuron, neuromuscular junction, or skeletal muscle function. These conditions are also known to have clinical and genetic heterogeneity and variable ages of onset.
Amanda Rosenberg +5 more
wiley +1 more source
European Journal of Neurology, Volume 29, Issue 12, Page 3486-3507, December 2022., 2022 This consensus statement summarizes the most important recommendations concerning anaesthesia in patients with neuromuscular disorders. Abstract Background and purpose Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia.
Luuk R. van den Bersselaar +21 more
wiley +1 more source
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
Annals of Clinical and Translational Neurology, Volume 9, Issue 11, Page 1702-1714, November 2022., 2022 Abstract Objective Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. Methods In our previously conducted observational study, we assessed nerve conduction and grip strength to examine the effect of cold exposure on motor function, based on which we conducted a randomized controlled trial to ...
Shinichiro Yamada +10 more
wiley +1 more source
COVID‐19 infection and vaccination in patients with skeletal muscle channelopathies
Muscle &Nerve, Volume 66, Issue 5, Page 617-620, November 2022., 2022 Abstract Introduction/Aims Although we have gained insight into coronavirus disease‐2019 (COVID‐19) caused by severe acute respiratory syndrome–coronavirus 2 since the beginning of the pandemic, our understanding of the consequences for patients with neuromuscular disorders is evolving.
Vinojini Vivekanandam +2 more
wiley +1 more source
The long exercise test as a functional marker of periodic paralysis
Muscle &Nerve, Volume 65, Issue 5, Page 581-585, May 2022., 2022 Abstract Aims The aim of this study was to evaluate the sensitivity of the long exercise test (LET) in the diagnosis of periodic paralysis (PP) and assess correlations with clinical phenotypes and genotypes. Methods From an unselected cohort of 335 patients who had an LET we analyzed 67 patients with genetic confirmation of PP and/or a positive LET ...
Ana Ribeiro +7 more
wiley +1 more source
Frontiers in Neurology, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 188, Issue 4, Page 1251-1258, April 2022., 2022 Abstract Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to cause ET. In continuation of the previous report on the association between SCN4A and ET in a family from
Maria Asif +10 more
wiley +1 more source
Frontiers of Sodium MRI Revisited: From Cartilage to Brain Imaging
Journal of Magnetic Resonance Imaging, Volume 54, Issue 1, Page 58-75, July 2021., 2021 Sodium magnetic resonance imaging (23Na‐MRI) is a highly promising imaging modality that offers the possibility to noninvasively quantify sodium content in the tissue, one of the most relevant parameters for biochemical investigations. Despite its great potential, due to the intrinsically low signal‐to‐noise ratio (SNR) of sodium imaging generated by ...
Olgica Zaric +6 more
wiley +1 more source
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, Volume 11, Issue 1, January 2021., 2021 Prevalence study of hereditary neuromuscular disorders (HNMD) in Northern Norway based on medical journals, a national Norwegian registry, and medical genetics data. Results showed a high prevalence of HNMD (111.9/100,000) in Northern Norway. The prevalence of Myotonia Congenita and FKRP‐related Limb‐Girdle Muscular Dystrophy R9 might be the highest ...
Kai Ivar Müller +4 more
wiley +1 more source