Nondystrophic myotonia

11/01/2021 - "In conclusion, mexiletine improved stiffness and quality of life in patients with nondystrophic myotonia and was well tolerated."
12/11/2018 - "In a series of N-of-1 trials of mexiletine vs placebo in patients with nondystrophic myotonia, there was a reduction in mean daily-reported muscle stiffness that was consistent with the treatment effect in a previous randomized clinical trial. "
12/11/2018 - "To investigate the effectiveness of mexiletine in nondystrophic myotonia using an aggregated N-of-1 trials design and compare results between this innovative design and a previously conducted RCT. "
12/11/2018 - "Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials."
01/01/2021 - "Mexiletine is a long-known drug used for the treatment of arrhythmias and repurposed in the 1980s for patients with nondystrophic myotonia (NDM). "

12/01/2013 - "Advances have been made in both the treatment and our understanding of the molecular pathophysiology of muscle channelopathies: (1) a recent controlled trial showed that mexiletine was effective for reducing symptoms and signs of myotonia in nondystrophic myotonia; (2) the mechanisms by which hypokalemic periodic paralysis leads to a depolarized but unexcitable sarcolemma membrane have been traced to a novel gating pore current; and (3) an association was demonstrated between mutations in a potassium inward rectifier and patients with thyrotoxic periodic paralysis. "

05/01/2002 - "Becker syndrome, a recessive nondystrophic myotonia caused by mutations in the chloride channel 1 gene (CLCN1), is characterized by delayed muscle relaxation after contraction. "
01/01/2023 - "Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. "
12/01/2009 - "Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). "
06/01/2000 - "Becker's myotonia is a generalized congenita nondystrophic myotonia transmitted as an autosomal recessive trait and caused by allelic mutation of the gene encoding the chloride channel CLC-1 of the skeletal muscle fiber surface membrane, localized on chromosome 7q35. "

01/01/2020 - "Mutations of the voltage-gated sodium channel gene (SCN4A), which encodes Nav1.4, cause nondystrophic myotonia that occasionally is associated with severe apnea and laryngospasm. "

01/01/2020 - "A zebrafish model of nondystrophic myotonia with sodium channelopathy."

01/01/2017 - "The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. "