Results 11 to 20 of about 1,125 (172)

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   +4 more sources

Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita

Biomedicines, 2021
Paramyotonia congenita (PMC) is a rare hereditary skeletal muscle disorder. The major symptom, muscle stiffness, is frequently induced by cold exposure and repetitive exercise. Mutations in human SCN4A gene, which encodes the α-subunit of Nav1.4 channel,
Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming-Jen Lee   +3 more
doaj   +2 more sources

Kinetic Alterations in Resurgent Sodium Currents of Mutant Na_v1.4 Channel in Two Patients Affected by Paramyotonia Congenita

Biology, 2022
Paramyotonia congenita (PMC) is a rare skeletal muscle disorder characterized by muscle stiffness upon repetitive exercise and cold exposure. PMC was reported to be caused by dominant mutations in the SCN4A gene encoding the α subunit of the Nav1.4 ...
Ming-Jen Lee, Pi-Chen Lin, Ming-Hong Lin, Hsin-Ying Clair Chiou, Kai Wang, Chiung-Wei Huang   +5 more
doaj   +2 more sources

Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation [PDF]

Journal of the Formosan Medical Association, 2006
Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis.
Wei-Chih Hsu, Yung-Chuan Huang, Chung-Wei Wang, Chia-Hsiang Hsueh, Ling-Ping Lai, Jiann-Horng Yeh   +5 more
doaj   +2 more sources

Muscle channelopathies: A review. [PDF]

Ann Child Neurol Soc, 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 ...
McGowan BR, Schwaede AN, De Simone L, Rao VK.   +3 more
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

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases. [PDF]

NMR Biomed
This exploratory study investigated dynamic MRI during neuromuscular electrical stimulation (NMES) as a biomarker for muscular diseases. Fourteen healthy controls and ten patients with metabolic and myotonic myopathies underwent 3T MRI scanning. Results showed reduced strain and strain buildup rates in patients' soleus muscles compared to controls ...
Santini F, Croce MG, Deligianni X, Maggioni MB, Paoletti M, Barzaghi L, Bergsland N, Faggioli A, Manco G, Bonizzoni C, Jin N, Ravaglia S, Pichiecchio A.   +12 more
europepmc   +2 more sources

Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Dupont C, Deardorff A, Nawaz M, Voss AA, Rich MM.   +4 more
europepmc   +2 more sources

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

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