Potassium aggravated myotonia

Also Known As:

Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; Myotonia permanens; Myotonia, Potassium-Aggravated; Potassium-Aggravated Myotonia; Sodium Channel Myotonia

Networked: 42 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Myotonic Disorders (Paramyotonia Congenita)
2.	Neuralgia (Stump Neuralgia)
3.	Hyperkalemic Periodic Paralysis
4.	Myotonia
5.	Paralysis (Palsy)

Experts

1.	Desaphy, Jean-François: 5 articles (01/2020 - 01/2004)
2.	D'Amico, Adele: 3 articles (01/2020 - 05/2016)
3.	Lo Monaco, Mauro: 3 articles (01/2020 - 05/2016)
4.	Modoni, Anna: 3 articles (01/2020 - 04/2013)
5.	Kubota, Tomoya: 3 articles (06/2012 - 05/2009)
6.	Takahashi, Masanori P: 3 articles (06/2012 - 05/2009)
7.	Lucchiari, Sabrina: 2 articles (12/2021 - 05/2016)
8.	Pagliarani, Serena: 2 articles (12/2021 - 05/2016)
9.	Imbrici, Paola: 2 articles (01/2019 - 05/2016)
10.	Siciliano, Gabriele: 2 articles (01/2019 - 09/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Potassium aggravated myotonia:

1.	Mexiletine (Mexitil)FDA LinkGeneric 05/01/1999 - "Effect of mexiletine on sea anemone toxin-induced non-inactivating sodium channels of rat skeletal muscle: a model of sodium channel myotonia." 02/01/2004 - "Mexiletine is a class 1b antiarrhythmic drug used for ventricular arrhythmias but is also found to be effective for paramyotonia congenita, potassium-aggravated myotonia, long QT-3 syndrome, and neuropathic pain. " 01/01/2020 - "Mexiletine was suspended in 13 cases (22%); in three patients, affected by Sodium Channel myotonia, because flecainide showed better efficacy; in one patient because of a gastric cancer antecedent treatment; in four patients because of untreatable dyspepsia; and five patients considered the treatment not necessary. " 01/01/2019 - "Sodium channel myotonia and paramyotonia congenita are caused by gain-of-function mutations in the skeletal muscle voltage-gated sodium channel hNav1.4. The first-line drug is the sodium channel blocker mexiletine; however, some patients show side effects or limited responses. "
2.	Anti-Arrhythmia AgentsIBA 02/01/2004 - "Mexiletine is a class 1b antiarrhythmic drug used for ventricular arrhythmias but is also found to be effective for paramyotonia congenita, potassium-aggravated myotonia, long QT-3 syndrome, and neuropathic pain. "
3.	Sodium Channels (Sodium Channel)IBA 11/11/2006 - "Based on knowledge of the structure and mechanism of the sodium channel and study of literature on cases involving the identical mutation, the diagnosis 'potassium-aggravated myotonia' (PAM) was made. " 11/01/2019 - "Variants of the skeletal muscle sodium channel gene SCN4A are associated with different neuromuscular disorders including sodium channel myotonia. " 05/01/2009 - "These are allelic disorders originating from missense mutations in the gene that codes the skeletal muscle sodium channel, Nav1.4. Moreover, a severe form of PAM has been designated as myotonia permanens. " 11/01/2005 - "Fast inactivation and deactivation gating were compared between wild-type human voltage-gated skeletal muscle sodium channel (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V. " 05/01/1999 - "The sea anemone toxin ATX II impairs skeletal muscle sodium channel inactivation, mimicking the persistent inward current observed in patients suffering from sodium channel myotonia. "
4.	PotassiumIBA 01/01/2020 - "Nav1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). " 01/01/2008 - "Clinical studies have identified two forms of periodic paralyses: hypokalemic periodic paralysis (hypoKPP) and hyperkalemic periodic paralysis (hyperKPP), based on changes in serum potassium levels during the attacks, and three distinct forms of myotonias: paramyotonia congenita (PC), potassium-aggravated myotonia (PAM), and myotonia congenita (MC). " 11/01/1997 - "stiff or weak), particularly in response to elevated serum potassium (potassium-aggravated myotonia, hyperkalemic periodic paralysis) or cold environment (paramyotonia congenita); iii) dominant point mutations in the gene coding for the muscle L-type calcium channel alpha(1)-subunit can cause episodes of muscle inexcitability (i.e. "
5.	SodiumIBA 09/01/2017 - "Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. " 01/01/2017 - "Ten patients had sodium channelopathy (four paramyotonia congenita and six other sodium channel myotonia). " 01/15/2004 - "Whole-cell sodium currents (I(Na)) were recorded in tsA201 cells expressing wild-type (WT) and mutant hNa(v)1.4 channels (R1448C, paramyotonia congenita; G1306E, potassium-aggravated myotonia). " 12/01/2000 - "These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potassium-aggravated myotonia. " 11/27/2001 - "Whole-cell sodium currents (I(Na)) were recorded in tsA201 cells expressing human wild-type (WT) and mutant skeletal muscle sodium channels (A1156T, hyperkalemic periodic paralysis; R1448C, paramyotonia congenita; G1306E, potassium-aggravated myotonia). "
6.	Voltage-Gated Sodium ChannelsIBA 04/08/2020 - "Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for sodium channel myotonia (SCM). " 03/01/2017 - "The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia." 06/21/2012 - "Mutations of the voltage gated sodium channel gene (SCN4A) are responsible for non-dystrophic myotonia including hyperkalemic periodic paralysis, paramyotonia congenita, and sodium channel myotonia, as well as congenital myasthenic syndrome. " 01/01/2019 - "Sodium channel myotonia and paramyotonia congenita are caused by gain-of-function mutations in the skeletal muscle voltage-gated sodium channel hNav1.4. The first-line drug is the sodium channel blocker mexiletine; however, some patients show side effects or limited responses. "
7.	Flecainide (Tambocor)FDA LinkGeneric 04/01/2016 - "Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review." 04/01/2013 - "Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy." 01/01/2020 - "Mexiletine was suspended in 13 cases (22%); in three patients, affected by Sodium Channel myotonia, because flecainide showed better efficacy; in one patient because of a gastric cancer antecedent treatment; in four patients because of untreatable dyspepsia; and five patients considered the treatment not necessary. "
8.	Chloride Channels (Chloride Channel)IBA 10/01/2011 - "The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. " 04/01/2007 - "These diseases are divided into those with chloride channel dysfunction (the myotonia congenita disorders) and those with sodium channel dysfunction (paramyotonia congenita, potassium-aggravated myotonia, and hyperkalemic periodic paralysis with myotonia). "
9.	ChloridesIBA 01/01/2017 - "But electrodiagnosis suggested sodium channel myotonia instead of chloride channelopathy. " 09/01/1998 - "The fluctuating symptoms of this chloride channelopathy are discussed with respect to short-term fluctuations of myotonia in the sodium channelopathy of potassium-aggravated myotonia."
10.	NAV1.4 Voltage-Gated Sodium ChannelIBA 11/18/2008 - "A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia."

Therapies and Procedures

1.	Therapeutics 05/31/2016 - "Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation."