|2.||Facial Paralysis (Facial Palsy)
|3.||Myotonic Disorders (Paramyotonia Congenita)
|4.||Hyperkalemic Periodic Paralysis (Periodic Paralysis, Hyperkalemic)
|5.||Muscular Dystrophies (Muscular Dystrophy)
|1.||Fahlke, Christoph: 5 articles (01/2015 - 09/2002)|
|2.||Desaphy, Jean-François: 4 articles (09/2015 - 10/2013)|
|3.||Modoni, Anna: 4 articles (02/2015 - 02/2011)|
|4.||Hanna, Michael G: 4 articles (06/2014 - 11/2008)|
|5.||Conte Camerino, Diana: 3 articles (09/2015 - 10/2013)|
|6.||Imbrici, Paola: 3 articles (09/2015 - 09/2013)|
|7.||Sternberg, Damien: 3 articles (01/2015 - 02/2008)|
|8.||Burgunder, Jean-Marc: 3 articles (01/2014 - 05/2004)|
|9.||George, Alfred L: 3 articles (10/2013 - 12/2002)|
|10.||Fialho, Doreen: 3 articles (04/2013 - 11/2008)|
|1.||Sodium Channels (Sodium Channel)IBA
05/01/1992 - "Recent in vitro electrophysiologic studies have demonstrated abnormal sodium channel gating in muscle from patients with Thomsen's disease and have called the chloride hypothesis into question. "
02/01/2015 - "Sodium channel slow inactivation as a therapeutic target for myotonia congenita."
02/01/1992 - "Linkage of atypical myotonia congenita to a sodium channel locus."
05/01/2013 - "We report a teenage boy, who presented with features of HyperPP, PC, myotonia congenita, and sodium channel myotonia. "
02/01/2011 - "In patients with negative short exercise tests, symptomatic eye closure myotonia predicted sodium channel myotonia over myotonia congenita. "
04/01/1989 - "Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica."
08/01/1992 - "Electrophysiologic studies in patients with autosomal dominant myotonia congenita (ADMC) have implicated defects of both muscle membrane sodium and chloride channels. "
05/01/2010 - "Sodium channelopathies (NaCh), as part of the non-dystrophic myotonic syndromes (NDMs), reflect a heterogeneous group of clinical phenotypes accompanied by a generalized myotonia. "
02/01/1997 - "The recent discoveries that mutations in the genes for the skeletal muscle sodium and chloride channels are responsible, respectively, for paramyotonia/hyperkalemic periodic paralysis and for myotonia congenita of Thomsen have made the classification, diagnosis, and treatment of these disorders much easier. "
07/01/2009 - "Patients with non-dystrophic myotonias, including chloride (myotonia congenita) and sodium channelopathies (paramyotonia congenita/potassium aggravated myotonias), may show muscular hypertrophy in combination with some histopathological abnormalities. "
|3.||Acetazolamide (Diamox)FDA LinkGeneric
03/01/1987 - "Acetazolamide-responsive myotonia congenita."
07/01/1984 - "Acetazolamide is effective treatment for myotonia in certain patients with myotonia congenita. "
06/01/1978 - "The beneficial response to acetazolamide in hypokalemic and hyperkalemic periodic paralysis has led us to study the effect of acetazolamide in 9 patients with disorders having myotonia as the major problem, 7 with myotonia congenita and 2 with paramyotonia congenita. "
02/01/1992 - "This allele was tightly linked to a skeletal-muscle, sodium channel locus which is now a candidate for the site of the mutational defect in acetazolamide-responsive myotonia congenita. "
07/01/1984 - "Glucose disposal was normal in patients with myotonia congenita; administration of acetazolamide increased glucose disposal in normal subjects and in patients with myotonia congenita. "
|5.||Prednisone (Sone)FDA LinkGeneric
|6.||Flecainide (Tambocor)FDA LinkGeneric
|7.||1,2- diarachidonoyl- glycero- 3- phosphocholineIBA
|8.||Chloride Channels (Chloride Channel)IBA
03/01/2014 - "A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. "
09/15/2015 - "Myotonia congenita is an inherited disease caused by loss-of-function mutations of the skeletal muscle ClC-1 chloride channel, characterized by impaired muscle relaxation after contraction and stiffness. "
01/01/2015 - "Mutations in the muscle chloride channel gene (CLCN1) cause myotonia congenita, an inherited condition characterized by muscle stiffness upon sudden forceful movement. "
06/01/2014 - "Chloride channels in myotonia congenita assessed by velocity recovery cycles."
05/01/2014 - "Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). "
11/01/1994 - "Potassium caused generalized myotonia. "
07/01/1961 - "[On the problem of potassium in myotonia congenita (Thomsen)]."
07/01/1984 - "Patients with myotonia congenita had elevated potassium levels in the basal state and a greater fall in potassium level during the insulin clamp procedure than controls. "
08/01/1994 - "We also report the putative disease-causing mutation in acetazolamide-responsive myotonia congenita, a related disease in which myotonia is worsened by potassium but in which episodic weakness does not occur. "
07/01/1984 - "Administration of acetazolamide did not alter these abnormalities in potassium metabolism in patients with either myotonia congenita or myotonic dystrophy."
|10.||Mexiletine (Mexitil)FDA LinkGeneric
02/01/2015 - "This neurophysiological test might be considered a helpful tool to assess the effect of anti-myotonic drugs, as mexiletine, in recessive myotonia congenita."
02/01/2015 - "We evaluated 21 patients with recessive myotonia congenita referred to our institute from 1990 to 2013 and treated with mexiletine chlorhydrate. "
02/01/2015 - "We aim to demonstrate the effect of mexiletine on the compound muscle action potential (CMAP) amplitude transitory depression (TD) in a cohort of patients with recessive myotonia congenita. "
02/01/2015 - "Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita."
10/01/2005 - "Six male patients with myotonia congenita followed a standardised protocol with time scoring and rest on two occasions, with and without mexiletine. "
04/01/1996 - "[Anesthesia for cesarean delivery in a case of myotonia congenita]."
01/01/2010 - "Most patients do not require treatment for the myotonia itself, unless it is severe, but physicians must be aware of anesthesia risks in both myotonia congenita and myotonic dystrophy. "
05/01/1988 - "We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation after each developed muscle rigidity with anesthesia. "
|3.||Spinal Fusion (Spondylosyndesis)
09/01/1985 - "Eleven patients diagnosed as having muscular dystrophy and who underwent posterior spinal fusion were reviewed: Becker dystrophy in one, limb girdle in two, facioscapulohumeral in one, myopathia unspecified in one, myotonia dystrophica in two, myotonia congenita in one, and hypotonia congenita in three. "
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. "