Results 21 to 30 of about 1,125 (172)

Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia – a case report

BMC Anesthesiology, 2021
Background Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles.
Wei Shyan Siow, Wan-Ling Alyssa Chiew
doaj   +1 more source

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Frontiers in Neurology, 2022
IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

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, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders

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, Cuixia Tian, Hua He, Elizabeth Ulm, Kathleen Collins Ruff, Chinmayee B. Nagaraj   +5 more
wiley   +1 more source

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

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, Luc Heytens, Helga C. A. Silva, Jens Reimann, Giorgio Tasca, Óscar Díaz‐Cambronero, Nicoline Løkken, Anna Hellblom, Philip M. Hopkins, Henrik Rueffert, Börge Bastian, Juan Jesus Vilchez, Robyn Gillies, Stephan Johannsen, Francis Veyckemans, Tino Muenster, Andrea Klein, Ron Litman, Heinz Jungbluth, Sheila Riazi, Nicol C. Voermans, Marc M. J. Snoeck   +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, Atsushi Hashizume, Yasuhiro Hijikata, Tomonori Inagaki, Daisuke Ito, Yoshiyuki Kishimoto, Fumie Kinoshita, Akihiro Hirakawa, Shinobu Shimizu, Tomohiko Nakamura, Masahisa Katsuno   +10 more
wiley   +1 more source

The Notch signaling pathway in skeletal muscle health and disease

Muscle &Nerve, Volume 66, Issue 5, Page 530-544, November 2022., 2022
Abstract The Notch signaling pathway is a key regulator of skeletal muscle development and regeneration. Over the past decade, the discoveries of three new muscle disease genes have added a new dimension to the relationship between the Notch signaling pathway and skeletal muscle: MEGF10, POGLUT1, and JAG2.
Dorianmarie Vargas‐Franco, Raghav Kalra, Isabelle Draper, Christina A. Pacak, Atsushi Asakura, Peter B. Kang   +5 more
wiley   +1 more source

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +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, Karen J. Suetterlin, Iwona Skorupinska, S. Veronica Tan, Jasper M. Morrow, Emma Matthews, Michael G. Hanna, Doreen Fialho   +7 more
wiley   +1 more source

An analysis of myotonia in paramyotonia congenita [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1974
In two subjects with paramyotonia congenita myotonic delay in muscle relaxation, recorded electromyographically and with a displacement transducer, was found to increase with repeated forceful contractions. Myotonia was elicited readily in warm temperatures, was initially aggravated by cooling, but was invariably lost as muscle fatigue developed.
D, Burke, N F, Skuse, A K, Lethlean
openaire   +2 more sources