Myotonia Congenita (Thomsen Disease)

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120 relevant articles (2 outcomes, 6 trials/studies) found for this Disease

Description: A dominantly inherited muscle disease that begins in early childhood and is characterized by severe myotonia (delayed relaxation of a muscle) after forceful voluntary contractions. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. Myotonia typically becomes less severe with repetitive voluntary contractions of the affected muscles. Generalized myotonia (of Becker) is an autosomal recessive variant of myotonia congenita that may feature more severe myotonia and muscle wasting. (From Adams et al., Principles of Neurology, 6th ed, pp1476-7; Joynt, Clinical Neurology, 1997, Ch53, p18)

Also Known As:

Thomsen Disease; Generalized Myotonia of Becker; Generalized Myotonia of Thomsen; Myotonia Levior; Myotonia, Generalized; Thomsen's Disease; Thomsens Disease; Generalized Myotonia; Generalized Myotonia, Becker; Generalized Myotonias; Myotonia, Becker Generalized; Myotonias, Generalized; Thomsen Generalized Myotonia; Thomsen Generalized Myotonias; Becker Generalized Myotonia; Myotonia, Generalized, Becker

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 83

Muscular Diseases: 4137

Myotonic Disorders: 150

Myotonia Congenita: 120

Nervous System Diseases: 3414

Neurodegenerative Diseases: 7363

Nervous System Heredodegenerative Disorders: 24

Myotonia Congenita: 120

Neuromuscular Diseases: 743

Muscular Diseases: 4137

Myotonic Disorders: 150

Myotonia Congenita: 120

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 421

Inborn Genetic Diseases: 549

Nervous System Heredodegenerative Disorders: 24

Myotonia Congenita: 120

Related Diseases

1.	Myotonia
2.	Myotonic Disorders (Paramyotonia Congenita)
3.	Hyperkalemic Periodic Paralysis (Periodic Paralysis, Hyperkalemic)
4.	Syndrome
5.	Muscular Dystrophies (Muscular Dystrophy)

Experts

1.	Fahlke, Christoph: 2 articles (12/2002 - 09/2002)
2.	Myllylä, Raili: 1 article (03/2008)
3.	Metsikkö, Kalervo: 1 article (03/2008)
4.	Papponen, Hinni: 1 article (03/2008)
5.	Kaisto, Tuula: 1 article (03/2008)
6.	Nissinen, Marja: 1 article (03/2008)
7.	Myllylä, Vilho V: 1 article (03/2008)
8.	Huang, Chin-Chang: 1 article (12/2007)
9.	Kuo, Hung-Chou: 1 article (12/2007)
10.	Hsiao, Kuang-Ming: 1 article (12/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Myotonia Congenita:

1.	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" Order ALL the reference details at left...
2.	Histamine H1 Antagonists (Antihistamines)IBA 01/05/1991 - "Antihistamines seem to deserve further evaluation as a safe and effective treatment for myotonia congenita." 01/05/1991 - "Response to treatment with antihistamines in a family with myotonia congenita." Order ALL the reference details at left...
3.	Chloride Channels (Chloride Channel)IBA 11/01/2008 - "Myotonia congenita is caused by mutations in the voltage-gated chloride channel ClC-1" 08/01/2008 - "We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (ClCN1) mutations" 06/01/2008 - "Myotonia congenita (MC) is a rare disorder of skeletal muscle caused by mutations in the CLCN1 gene,(1,2) which encodes the chloride ion channel found in the t-tubule of skeletal muscle" 03/01/2008 - "In northern Finland myotonia congenita is caused by three main mutations in the ClC-1 chloride channel" 03/01/2008 - "F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1." Order ALL the reference details at left...
4.	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" 02/01/1992 - "Linkage of atypical myotonia congenita to a sodium channel locus." 11/01/2002 - "While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A" 05/01/1992 - "We present a pedigree segregating an allele for Thomsen's disease that is unlinked to this sodium channel locus, thus constituting evidence of genetic heterogeneity among the nondystrophic myotonias." 05/01/1992 - "Abnormal sodium channel function, like myotonia, is a feature common to Thomsen's disease and several myotonias that are genetically linked to a chromosome-17q sodium channel locus" Order ALL the reference details at left...
5.	SodiumIBA 04/01/1989 - "Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica." 01/01/1991 - "Electrophysiological abnormalities in muscle sodium conductance have been reported for both HIKPP and HOKPP as well as other muscle disorders characterized by membrane hyperexcitability or myotonia (myotonia congenita, paramyotonia congenita and the Schwartz-Jampel syndrome)" 08/01/1992 - "Electrophysiologic studies in patients with autosomal dominant myotonia congenita (ADMC) have implicated defects of both muscle membrane sodium and chloride channels" 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" 10/01/1971 - "Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita." Order ALL the reference details at left...
6.	9-anthroic acidIBA 03/01/1990 - "The correlation between electrical and mechanical after-activity was studied in resealed fiber segments from patients with recessive generalized myotonia (Becker) and in intact fibers from normal muscles which were bathed in 9-anthracene carboxylic acid" 11/01/1989 - "The similarities between the myotonia induced by anthracene-9-carboxylic acid and the characteristic myotonic, haematological and biochemical alterations in patients with myotonia congenita, suggest that, despite untoward effects such as a decrease of body weight, chronic anthracene-9-carboxylic acid administration appears to be a good model for the study of mytonia congenita." 12/01/1971 - "It is concluded that these compounds block chloride conductance.4. The carboxylic acids produced myotonia in normal fibres similar to that in untreated myotonic fibres.5. Anthracene-9-carboxylic acid intravenously (8 mg/kg) in normal goats produced acutely a condition resembling myotonia congenita" Order ALL the reference details at left...
7.	Phenytoin (Dilantin)FDA LinkGeneric 04/20/1972 - "Diphenylhydantoin for myotonia congenita." 01/01/1984 - "This review revealed that, on the basis of controlled studies, phenytoin is probably useful in the continuous muscle fiber activity syndrome, myotonic muscular dystrophy, and myotonia congenita" Order ALL the reference details at left...
8.	Proteins (Proteins, Gene)IBA 01/01/2002 - "Recent studies on ClC-K1, ClC-2, ClC-3, ClC-5 and ClC-7 knockout mice and the identification of human inherited diseases caused by mutations of some of these chloride channels (myotonia congenita for ClC-1, Bartter disease for ClC-Kb, Dent's disease for ClC-5 and osteopetrose for ClC-7) have provided lines of direct evidence of the physiological relevance and importance of these chloride channels in the transport of chloride and in the endocytosis and transcytosis of proteins in specialized cells from the kidney and other tissues." Order ALL the reference details at left...
9.	PotassiumIBA 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." Order ALL the reference details at left...
10.	Ion Channels (Ion Channel)IBA 09/01/1992 - "Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function" 03/01/1993 - "Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach." 10/01/1999 - "Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized" 11/01/1997 - "Since 1990, many mutations, in genes encoding ion channels have been discovered to cause disorders characterized by hyper- or hypoexcitability of skeletal muscle or the central nervous system (CNS): i) mutations in the muscle chloride channel gene lead to a loss or change of function of the channels and cause an abnormally low total chloride conductance resulting in hyperexcitability of the muscle fiber membrane in the dominant and recessive form of myotonia congenita; ii) numerous dominant point mutations in the gene encoding the muscle sodium channel alpha-subunit cause incomplete sodium channel inactivation" 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)" Order ALL the reference details at left...

Therapies and Procedures

1.	Anesthesia 04/01/1996 - "Anesthesia for cesarean delivery in a case of myotonia congenita]" 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" Order ALL the reference details at left...
2.	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" Order ALL the reference details at left...
3.	Lenses 03/01/1975 - "The authors discuss the problem of the differential diagnosis between Thomsen's disease and Steinert's disease and emphasize the importance of a biomicroscopic examination of the lenses to detect the abortive and pre-clinical forms of myotonic dystrophy" Order ALL the reference details at left...
4.	Electrodes (Electrode) 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" Order ALL the reference details at left...
5.	Denervation 01/01/1956 - "Characteristics of muscle following denervation, in myotonia congenita and in protopathic muscle diseases; findings on the significance of galvanotonus & myotonus.]" Order ALL the reference details at left...

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