Results 61 to 70 of about 10,373 (189)

Asymptomatic myotonia congenita unmasked by severe hypothyroidism

, 2014
Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations ...
E. Passeri, V.A. Sansone, C. Verdelli, S. Corbetta, M. Mendola   +4 more
core   +1 more source

Case Report: General Anesthetic Management for Laparoscopic Cholecystectomy in Paramyotonia Congenita

International Journal of Medical Students, 2020
Background: Paramyotonia congenita (PC) is a rare disorder affecting skeletal muscle. Patients with this non-progressive condition experience intermittent episodes of sustained myotonia.
Analise McGreal, Daniel Slagle, Andrew Dickens   +2 more
doaj   +1 more source

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang, Prakash Sapkota, Sankalpa Humagain, Kemisha Dhakal, Chhavi Sachdeva, Deshant Shah, Prakriti Lamsal   +6 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, Volume 12, Issue 8, Page 1528-1547, August 2025.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.
ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
wiley   +1 more source

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Klinischer Beitrag zur Kenntnis der Myotonia congenita [PDF]

, 1929
Die Äthiologie und die Pathogenese der Myotonia congenita liegen noch ganz im Dunkeln, trotzdem wir seit Thomsen enorm viele klinische Mitteilungen darüber haben.
Yokoyama, T., Fukuda, Y., T. Yokoyama, Y. Fukuda   +3 more
core   +1 more source

Myotonia congenita and myoadenylate deaminase deficiency: case report

Arquivos de Neuro-Psiquiatria, 2003
Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance.
Scola Rosana Herminia, Iwamoto Fabio Massaiti, Camargo Carlos Henrique, Arruda Walter Oleschko, Werneck Lineu Cesar   +4 more
doaj  

MYL1‐Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.
This study describes two individuals with severe congenital myopathy caused by novel biallelic MYL1 variants. Detailed muscle analyses revealed selective type II fibre hypotrophy, aberrant myofibrillogenesis, and signs of autophagic impairment. The findings expand the clinical and pathological spectrum of MYL1‐related myopathy and suggest a broader ...
Irene Madrigal, Cristina Villar‐Vera, Gemma Arca, Jesica Expósito‐Escudero, Laia Rodríguez‐Revenga, Andres Piolatti‐Luna, Nuria Muelas, Roger Vilchez, Maria Ciutad Celdran, Anna Codina, Berta Estévez‐Arias, Laura Carrera‐Garcia, Carlos Ortez, Leonardo Rodriguez‐Carunchio, Giorgia Sebastiani, Inmaculada Azorin, Andrés Nascimento, Cristina Jou, Juan Jesus Vilchez, Daniel Natera‐de Benito   +19 more
wiley   +1 more source