Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

Thomsen, Jens Peter Frølund

doi:10.1007/bf02164912

Cited by 179 publications

(85 citation statements)

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“…The autosomal dominant form was first described in the 19th century by the Danish physician Julius Thomsen in himself and his family (Thomsen, 1876). In the 1970s, the German Physician P.E.…”

Section: Clinical Features Myotonia Congenitamentioning

confidence: 99%

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

Matthews

Fialho

Tan

et al. 2009

Brain

197

226

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The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability. Many distinct clinical phenotypes are now recognized and range in severity from severe neonatal myotonia with respiratory compromise through to milder late-onset myotonic muscle stiffness. Specific genetic mutations in the major skeletal muscle voltage gated chloride channel gene and in the voltage gated sodium channel gene are causative in most patients. Recent work has allowed more precise correlations between the genotype and the electrophysiological and clinical phenotype. The majority of patients with myotonia have either a primary or secondary loss of membrane chloride conductance predicted to result in reduction of the resting membrane potential. Causative mutations in the sodium channel gene result in an abnormal gain of sodium channel function that may show marked temperature dependence. Despite significant advances in the clinical, genetic and molecular pathophysiological understanding of these disorders, which we review here, there are important unresolved issues we address: (i) recent work suggests that specialized clinical neurophysiology can identify channel specific patterns and aid genetic diagnosis in many cases however, it is not yet clear if such techniques can be refined to predict the causative gene in all cases or even predict the precise genotype; (ii) although clinical experience indicates these patients can have significant progressive morbidity, the detailed natural history and determinants of morbidity have not been specifically studied in a prospective fashion; (iii) some patients develop myopathy, but its frequency, severity and possible response to treatment remains undetermined, furthermore, the pathophysiogical link between ion channel dysfunction and muscle degeneration is unknown; (iv) there is currently insufficient clinical trial evidence to recommend a standard treatment. Limited data suggest that sodium channel blocking agents have some efficacy. However, establishing the effectiveness of a therapy requires completion of multi-centre randomized controlled trials employing accurate outcome measures including reliable quantitation of myotonia. More specific pharmacological approaches are required and could include those which might preferentially reduce persistent muscle sodium currents or enhance the conductance of mutant chloride channels. Alternative strategies may be directed at preventing premature mutant channel degradation or correcting the mis-targeting of the mutant channels.

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Section: Clinical Features Myotonia Congenitamentioning

confidence: 99%

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

Matthews

Fialho

Tan

et al. 2009

Brain

197

226

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“…Thomsen himself suffered from the disease and described it in 1876 [Thomsen, 1876]. Recessive GMC (MIM# 255700) is also called Becker-type myotonia [Becker, 1957].…”

Section: Channel Myotoniamentioning

confidence: 99%

Myotonia caused by mutations in the muscle chloride channel geneCLCN1

2002

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Pure non-syndromic, non-dystrophic myotonia in humans is caused by mutations in the genes coding for the skeletal muscle sodium channel (SCN5A) or the skeletal muscle chloride channel (CLCN1) with similar phenotypes. Chloride-channel myotonia can be dominant (Thomsen-type myotonia) or recessive (Becker-type myotonia). More than 60 myotonia-causing mutations in the CLCN1 gene have been identified, with only a few of them being dominant. A common phenotype of dominant mutations is a dominant negative effect of mutant subunits in mutant-WT heterodimers, causing a large shift of the steady-state open probability voltage-dependence towards more positive, unphysiological voltages. The study of the properties of disease causing mutations has helped in understanding the functional properties of the CLC-1 channel that is part of a nine-member gene family of chloride channels. The large body of knowledge obtained for CLC-1 may also help to better understand the other CLC channels, three of which are also involved in genetic diseases.

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“…Batten et Gibb (1909) ne sont pas les premiers à avoir décrit des cas de DM. Cependant, depuis la publication de Thomsen (1876) sur la myotonie congénitale (maintenant connue sous la nom de maladie de Thomsen) jusqu'aux travaux de Steinert, une certaine confusion existait entre les deux maladies, certains cas étant considérés comme étant des cas de maladie de Thomsen atypique ou encore des cas de myotonie congénitale avec atrophie musculaire (Erb 1886;Curschmann 1906). Il n'en demeure pas moins que plusieurs cas publiés entre 1876 et 1909 sont indéniablement des cas de DM (Dana 1888;Hoffman 1900;Rossolino 1902;Passler 1906;Furnrohr 1907 (Curschmann 1912(Curschmann , 1925(Curschmann , 1936 La dystrophie myotonique est la forme de dystrophie musculaire la plus fréquente de l'âge adulte.…”

Section: Chapitre Iunclassified

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

Dao¹

1992

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Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition

Cited by 179 publications

References 0 publications

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment

Myotonia caused by mutations in the muscle chloride channel geneCLCN1

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

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