Results 11 to 20 of about 1,313 (165)

A case of paramyotonia congenita in pregnancy. [PDF]

Obstet Med, 2020
Paramyotonia congenita is a rare autosomal dominant non-dystrophic myopathy caused by mutations in the SNC4A gene, which encodes for the voltage-gated sodium channel in skeletal muscle. Symptom onset is typically during early childhood and is characterised by myotonia followed by flaccid paralysis or weakness, usually exacerbated by repeated muscle ...
Brooks EK, Schweitzer D, Robinson HL.
europepmc   +4 more sources

Paradoxical pseudomyotonia in English Springer and Cocker Spaniels

Journal of Veterinary Internal Medicine, 2020
Background Paramyotonia congenita and Brody disease are well‐described conditions in humans, characterized by exercise‐induced myotonic‐like muscle stiffness. A syndrome similar to Brody disease has been reported in cattle.
Kimberley Stee, Mario Van Poucke, Luc Peelman, Mark Lowrie   +3 more
doaj   +2 more sources

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies [PDF]

European Journal of Histochemistry, 2009
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola, V Sansone, G Rotondo, E Mancinelli   +3 more
doaj   +4 more sources

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P [PDF]

Frontiers in Physiology
IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
François Charles Wang, François Charles Wang, Olivier Bouquiaux, Olivier Bouquiaux, Isabelle Lievens, Bernard Lakaye, Laura Vandries, Margaux Poleur, Samira Abdou Ide, Nurcan Inci, Vincent Seutin   +10 more
doaj   +2 more sources

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review [PDF]

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
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Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers [PDF]

Annals of Indian Academy of Neurology
Kamalesh Tayade, Vishakha Ghadi, Dynaneshwar Asole, Haresh Bharote, Anil Venkatachalam   +4 more
doaj   +2 more sources

COVID-19 infection and vaccination in patients with skeletal muscle channelopathies. [PDF]

Muscle Nerve, 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.
Vivekanandam V, Jayaseelan D, Hanna MG.
europepmc   +2 more sources

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report. [PDF]

Clin Case Rep
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.
Tamang A, Sapkota P, Humagain S, Dhakal K, Sachdeva C, Shah D, Lamsal P.   +6 more
europepmc   +2 more sources

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia. [PDF]

Eur J Neurol
ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations.
Periviita V, Männikkö R, Jokela M, Sud R, Hanna MG, Udd B, Palmio J.   +6 more
europepmc   +2 more sources

Physical Therapy Interventions and Response to this Treatment in a 13-year-old Female with Paramyotonia Congenita

International Journal of Physiotherapy, 2023
Background: Paramyotonia Congenita (PMC) is a rare genetic disorder that affects the sodium ion pump at the level of muscles, retarding muscular relaxation after activation. Symptoms may include isolated or global muscle stiffness, with or without pain.
Morgan Ricks, Warren Lake, Trent Jackman
doaj   +1 more source