Results 21 to 30 of about 1,313 (165)

Hypokalemic Paralysis Is Not Always Periodic: A Case Series. [PDF]

Case Rep Med
Potassium is vital for cellular function, particularly in excitable tissues like nerves and muscles, which rely on potassium gradients to function normally. Hypokalemia can lead to severe issues such as muscle weakness and irregular heart rhythms. This case series presents four instances of hypokalemic paralysis, a neuromuscular condition that can be ...
Mohak Jain, Mehta G, Parmar A, Shastri M, Patel S, Gandhi V, Karatela S, Patel A.   +7 more
europepmc   +2 more sources

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Frontiers in Pharmacology, 2021
The voltage-gated sodium channel Nav1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation.
Sophie Nicole, Sophie Nicole, Philippe Lory, Philippe Lory   +3 more
doaj   +1 more source

Muscle channelopathies: A review

Annals of the Child Neurology Society, Volume 1, Issue 4, Page 273-288, December 2023., 2023
Abstract Background Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the ...
Bridget R. McGowan, Abigail N. Schwaede, Lenika De Simone, Vamshi K. Rao   +3 more
wiley   +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 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

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family

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, Ionut Dragos Mocanu, Uzma Abdullah, Wolfgang Höhne, Janine Altmüller, Ehtisham Ul Haq Makhdoom, Holger Thiele, Shahid Mahmood Baig, Peter Nürnberg, Luitgard Graul‐Neumann, Muhammad Sajid Hussain   +10 more
wiley   +1 more source

Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]

, 1987
To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Aickin, Becker, Bekény, Bradley, Bretag, Buchthal, Caldwell, Carson, Clausen, Drager, French, Gamstorp, Grafe, Grafe, Helweg-Larsen, Heuser, Hille, Hoff van't, Krull, Kwieciński, Kwieciński, Lehmann-Horn, Lehmann-Horn, Lehmann-Horn, Lewis, McArdle, McComas, Meulen van der, Ricker, Ricker, Riggs, Ruff, Rüdel, Rüdel, Stafstrom, Subramony, Sugimori, Thomas   +37 more
core   +1 more source