|1.||Motor Neuron Disease (Primary Lateral Sclerosis)
|4.||Neuralgia (Stump Neuralgia)
|5.||Muscle Cramp (Cramp)
|1.||Jurkat-Rott, Karin: 5 articles (11/2015 - 10/2003)|
|2.||Sternberg, D: 5 articles (11/2014 - 01/2003)|
|3.||Lehmann-Horn, Frank: 4 articles (10/2015 - 10/2003)|
|4.||Takahashi, Masanori P: 4 articles (06/2012 - 11/2007)|
|5.||Eymard, Bruno: 4 articles (04/2010 - 10/2003)|
|6.||Dengler, R: 4 articles (06/2001 - 01/2000)|
|7.||Hanna, Michael G: 3 articles (11/2014 - 01/2011)|
|8.||Sakoda, Saburo: 3 articles (06/2012 - 11/2007)|
|9.||Kubota, Tomoya: 3 articles (06/2012 - 05/2009)|
|10.||Sternberg, Damien: 3 articles (04/2010 - 02/2004)|
|1.||Mexiletine (Mexitil)FDA LinkGeneric
01/01/2000 - "The enhanced use-dependent block as seen with R1448H may explain the extraordinary therapeutic efficacy of mexiletine in most patients with paramyotonia congenita."
05/01/1986 - "[Effective treatment of paramyotonia congenita by mexiletene]."
01/01/2011 - "Common symptoms of paramyotonia congenita have been apparent from age 1 year and are beginning to respond to a recent trial of mexiletine. "
05/04/2010 - "A few preliminary trials have suggested that the antiarrhythmic drug mexiletine is useful, symptomatic treatment for nondystrophic myotonic disorders and DM1. "
10/01/1998 - "Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita."
|2.||Sodium Channels (Sodium Channel)IBA
01/01/2008 - "To study the clinical and genetic features in a large cohort of UK patients with sodium channel paramyotonia congenita. "
11/01/2000 - "Patch clamp studies of the thr1313met mutant sodium channel causing paramyotonia congenita."
11/01/2014 - "Despite the genetic channel heterogeneity of the myotonic disorders the sodium channel antagonists have become the main focus of pharmacological interest. "
04/15/2012 - "This case provides an example of the complexity and overlap of the clinical features of sodium channel myotonic disorders."
01/01/2008 - "Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating."
|3.||Potassium aggravated myotoniaIBA
10/01/2015 - "Ephaptic transmission between neighboring muscle fibers may not only cause the unusual size of the myotonic discharges in this family, but also a more severe type of potassium-aggravated myotonia than myotonia fluctuans."
05/01/2006 - "This shows that the Val1589Met mutation in the SCN4 gene may cause different phenotypes, either potassium-aggravated myotonia or paramyotonia congenita. "
04/22/1999 - "However, SI remained intact for both the HyperPP/paramyotonia congenita (PMC) mutant, A1156T, and the nonparalytic potassium-aggravated myotonia (PAM) mutant, V1589M. "
09/04/2012 - "To electrophysiologically characterize the Na(v)1.4 mutant N440K found in a Korean family with a syndrome combining symptoms of paramyotonia congenita, hyperkalemic periodic paralysis, and potassium-aggravated myotonia. "
12/01/2000 - "Missense mutations of the human skeletal muscle voltage-gated Na channel (hSkM1) underlie a variety of diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita, and potassium-aggravated myotonia. "
|4.||Acetazolamide (Diamox)FDA LinkGeneric
05/01/1987 - "We conclude that acetazolamide can be a safe and effective medication in paramyotonia congenita."
05/01/1987 - "Treatment of paramyotonia congenita with acetazolamide has been shown to reduce myotonic symptoms but severe weakness has developed in some patients leading to a recommendation not to use the drug in this disorder. "
05/01/1987 - "Treatment of paramyotonia congenita with acetazolamide."
02/01/1977 - "Acetazolamide-induced weakness in paramyotonia congenita."
02/01/1977 - "A patient with paramyotonia congenita, a related disorder with myotonia and episodic weakness, was studied during treatment with acetazolamide. "
|5.||Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
|6.||Tocainide (Tonocard)FDA Link
02/01/1987 - "Paramyotonia congenita: successful treatment with tocainide. "
03/01/1980 - "Successuful treatment of paramyotonia congenita (Eulenburg): muscle stiffness and weakness prevented by tocainide."
01/01/1985 - "Therefore, the authors recommend symptomatic therapy with tocainide for myotonia and paramyotonia congenita, as well as in myotonic dystrophy patients suffering from marked myotonic stiffness. "
12/01/1983 - "We investigated the effectiveness of tocainide and hydrochlorothiazide on muscular symptoms in a patient with paramyotonia congenita and episodic attacks of hyperkalemic paralysis. "
12/01/1983 - "Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis."
|7.||Lidocaine (Xylocaine)FDA LinkGeneric
10/01/1996 - "Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line."
03/01/1991 - "Significant improvement in symptoms of disabling cramps and muscle spasms was obtained in 9 patients with motor neuron diseases, tetany, and myotonic disorders who were treated with tocainide, a lidocaine analog. "
|8.||Propafenone (Rythmol)FDA LinkGeneric
03/27/2007 - "Efficacy of propafenone in paramyotonia congenita."
09/01/1987 - "The combination of neurologic examination, standard EMG, exercise test, cold exposure, potassium loading, eye examination, and pedigree analysis allows correct classification of nearly all patients with myotonic disorders. "
01/01/1974 - "[Electrical and mechanical Muscle Reaction in Adynamia episodica and Paramyotonia congenita after Cooling and Administration of Potassium]."
02/01/2000 - "Hypokalemic periodic paralyses, potassium-sensitive periodic paralyses, and paramyotonia congenita are reviewed. "
03/01/1993 - "Clinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium-sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature-sensitive (paramyotonia congenita [PC]) forms. "
02/01/2008 - "Mutations within the voltage-gated sodium channel alpha-subunit gene (SCN4A) have been described in association with several phenotypes including paramyotonia congenita, hyperkalemic or hypokalemic periodic paralysis, and potassium-aggravated myotonias. "
|10.||Ion Channels (Ion Channel)IBA
04/01/2007 - "For a comprehensive review of pertinent research and studies with application to diagnosis and treatment of individuals with nondystrophic myotonic disorders, the present article is best read in the context of other articles in this issue, especially those on ion channel physiology (Cannon) and pharmacology (Conte-Camerino), and on hyperkalemic periodic paralysis (Lehmann-Horn)."
06/01/1991 - "The purpose of this article is to focus on the more recent developments in the molecular and pharmacological analysis of cation transporting systems such as ionic channels and (Na+, K+) ATPase in myotonic disorders."
04/01/1987 - "The purpose of this review is to summarize the more recent developments in the molecular and pharmacological analysis of cation transporting systems such as ionic channels and (Na+,K+)-ATPase in myotonic disorders."
08/01/2001 - ""Pure" myotonic disorders affect only muscle and can be separated into ion channel disorders affecting either the chloride channel (myotonia congenita Thomsen or myotonia congenita Becker) or those affecting the sodium channel (paramyotonia, hyperkalemic periodic paralysis, and myotonia fluctuans). "
12/01/1996 - "Ion channel myopathies such as paramyotonia congenita, hyper- and hypokalaemic periodic paralysis, myotonia congenita, episodic ataxia and malignant hyperthermia were established as linked to mutations in genes encoding the sodium channel, dihydropyridine receptor, chloride channel, potassium channel and the ryanodine receptor calcium release channel, respectively. "
04/01/1996 - "[Intradural anesthesia in a case of paramyotonia congenita]."
01/01/2007 - "We performed anesthesia for a subtotal gastrectomy in a 70-year-old female patient with paramyotonia congenita (PC). "
01/01/2004 - "We report a case of paramyotonia congenita in a 2-mo-old male infant undergoing surgery for pyloric stenosis and inguinal hernia after an uneventful anesthesia."
06/01/2001 - "We examined the effects of propofol on a paramyotonia congenita mutant skeletal muscle sodium channel in vitro, because life-threatening complications resulting from severe muscle rigidity during induction of anesthesia have been observed using other anesthetics in patients with hereditary sodium channel myopathies. "
06/01/1983 - "Compound muscle action potential (CMAP) amplitudes, response to 2 Hz nerve stimulation, response to exercise and electromyographic needle electrode examination findings from the thenar muscles of two patients with paramyotonia congenita were compared with those from two patients with dominantly inherited myotonia congenita in warm (34 degrees C) and cold (20 degrees C) states. "
|4.||Drug Therapy (Chemotherapy)
04/01/2008 - "The diagnosis of Type 2 myotonic dystrophy (DM2/proximal myotonic myopathy) is often overlooked because of a nonspecific clinical presentation and muscle biopsy findings of a "denervation-like" pattern of unknown specificity that combines increased fiber size variation, central nucleation, small angulated fibers, Type 2 fiber atrophy, and nuclear clumps. "