Literature DB >> 19472919

Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.

F Lehmann-Horn1, K Jurkat-Rott, R Rüdel.   

Abstract

This article is dedicated to our teacher, Prof. Erich Kuhn, Heidelberg, on the occasion of his 88th birthday on 23rd November 2008. In contrast to muscular dystrophies, the muscle channelopathies, a group of diseases characterised by impaired muscle excitation or excitation-contraction coupling, can fairly well be treated with a whole series of pharmacological drugs. However, for a proper treatment proper diagnostics are essential. This article lists state-of-the-art diagnostics and therapies for the two types of myotonic dystrophies, for recessive and dominant myotonia congenita, for the sodium channel myotonias, for the primary dyskalemic periodic paralyses, for central core disease and for malignant hyperthermia susceptibility in detail. In addition, for each disorder a short summary of aetiology, symptomatology, and pathogenesis is provided.

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Year:  2008        PMID: 19472919      PMCID: PMC2858942     

Source DB:  PubMed          Journal:  Acta Myol        ISSN: 1128-2460


  57 in total

1.  Should patients with central core disease be screened for malignant hyperthermia?

Authors:  P J Halsall; L R Bridges; F R Ellis; P M Hopkins
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-07       Impact factor: 10.154

2.  A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Authors:  P J Lynch; J Tong; M Lehane; A Mallet; L Giblin; J J Heffron; P Vaughan; G Zafra; D H MacLennan; T V McCarthy
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-30       Impact factor: 11.205

3.  Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study.

Authors:  Arnaud Lazarus; Jean Varin; Dominique Babuty; Frédéric Anselme; Joel Coste; Denis Duboc
Journal:  J Am Coll Cardiol       Date:  2002-11-06       Impact factor: 24.094

4.  Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

Authors:  K Censier; A Urwyler; F Zorzato; S Treves
Journal:  J Clin Invest       Date:  1998-03-15       Impact factor: 14.808

5.  Creatine monohydrate in DM2/PROMM: a double-blind placebo-controlled clinical study. Proximal myotonic myopathy.

Authors:  C Schneider-Gold; M Beck; C Wessig; A George; H Kele; K Reiners; K V Toyka
Journal:  Neurology       Date:  2003-02-11       Impact factor: 9.910

6.  KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

Authors:  Gregor Andelfinger; Andrew R Tapper; Richard C Welch; Carlos G Vanoye; Alfred L George; D Woodrow Benson
Journal:  Am J Hum Genet       Date:  2002-07-29       Impact factor: 11.025

7.  Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

Authors:  M Pusch; K Steinmeyer; M C Koch; T J Jentsch
Journal:  Neuron       Date:  1995-12       Impact factor: 17.173

8.  Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study.

Authors:  Maggie C Walter; Peter Reilich; Hanns Lochmüller; Ralph Kohnen; Beate Schlotter; Hubert Hautmann; Elmar Dunkl; Dieter Pongratz; Wolfgang Müller-Felber
Journal:  J Neurol       Date:  2002-12       Impact factor: 4.849

9.  Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1.

Authors:  Mark Tarnopolsky; Douglas Mahoney; Terry Thompson; Heather Naylor; Timothy J Doherty
Journal:  Muscle Nerve       Date:  2004-01       Impact factor: 3.217

10.  Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.

Authors:  Karin Jurkat-Rott; Frank Lehmann-Horn
Journal:  Neurology       Date:  2004-03-23       Impact factor: 9.910

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  15 in total

1.  Treatment of myotonia congenita with retigabine in mice.

Authors:  Chris Dupont; Kirsten S Denman; Ahmed A Hawash; Andrew A Voss; Mark M Rich
Journal:  Exp Neurol       Date:  2019-02-07       Impact factor: 5.330

Review 2.  Central Role of Subthreshold Currents in Myotonia.

Authors:  Sabrina Metzger; Chris Dupont; Andrew A Voss; Mark M Rich
Journal:  Ann Neurol       Date:  2019-11-27       Impact factor: 10.422

3.  Myotonia congenita and myotonic dystrophy: surveillance and management.

Authors:  Allison Conravey; Lenay Santana-Gould
Journal:  Curr Treat Options Neurol       Date:  2010-01       Impact factor: 3.598

4.  Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice.

Authors:  Wei Feng; Genaro C Barrientos; Gennady Cherednichenko; Tianzhong Yang; Isela T Padilla; Kim Truong; Paul D Allen; José R Lopez; Isaac N Pessah
Journal:  Mol Pharmacol       Date:  2010-12-14       Impact factor: 4.436

Review 5.  Channelopathies of skeletal muscle excitability.

Authors:  Stephen C Cannon
Journal:  Compr Physiol       Date:  2015-04       Impact factor: 9.090

Review 6.  Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.

Authors:  Jeffrey M Statland; Richard J Barohn
Journal:  Continuum (Minneap Minn)       Date:  2013-12

7.  TRPV4 Antagonism Prevents Mechanically Induced Myotonia.

Authors:  Chris Dupont; Kevin Novak; Kirsten Denman; Jessica H Myers; Jeremy M Sullivan; Phillip V Walker; Nicklaus L Brown; David R Ladle; Laurent Bogdanik; Cathleen M Lutz; Andrew A Voss; Charlotte J Sumner; Mark M Rich
Journal:  Ann Neurol       Date:  2020-06-22       Impact factor: 10.422

8.  Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity.

Authors:  Koushik Choudhury; Tagore S Bandaru; Mohamed A Fouda; Kaveh Rayani; Mohammad-Reza Ghovanloo; Radda Rusinova; Tejas Phaterpekar; Karen Nelkenbrecher; Abeline R Watkins; Damon Poburko; Jenifer Thewalt; Olaf S Andersen; Lucie Delemotte; Samuel J Goodchild; Peter C Ruben
Journal:  J Gen Physiol       Date:  2021-05-03       Impact factor: 4.086

Review 9.  Drug treatment for myotonia.

Authors:  J Trip; G Drost; B G M van Engelen; C G Faber
Journal:  Cochrane Database Syst Rev       Date:  2006-01-25

10.  In vivo evaluation of antimyotonic efficacy of β-adrenergic drugs in a rat model of myotonia.

Authors:  Jean-François Desaphy; Teresa Costanza; Roberta Carbonara; Diana Conte Camerino
Journal:  Neuropharmacology       Date:  2012-09-18       Impact factor: 5.250

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