Literature DB >> 11382195

Therapy in myotonic disorders and in muscle channelopathies.

G Meola1, V Sansone.   

Abstract

Myotonia and muscle weakness are cardinal features of myotonic disorders including the myotonic dystrophies and the non-dystrophic myotonias. Despite the recent progress in molecular genetics of these myotonic disorders, the precise mechanisms responsible for myotonia and for permanent or episodic muscle weakness are still unclear. Treatment has been mostly symptomatic, independent of the disease process involved. Moreover, there have been few randomized controlled trials of treatment for myotonic disorders and consequently no standardized treatment regimens are available. We present a review of selected treatment trials in the myotonic disorders and in muscle channelopathies, and discuss, on the basis of our experience in the myotonic disorders, the limits and advantages of treatment trials in this field. Future genotype-phenotype correlations using the patch-clamp technique are also illustrated.

Entities:  

Mesh:

Substances:

Year:  2000        PMID: 11382195     DOI: 10.1007/s100720070009

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  6 in total

Review 1.  Inherited disorders of voltage-gated sodium channels.

Authors:  Alfred L George
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

2.  Case 12: my doctor says that I have ALS!

Authors:  Robin K Wilson; Vinay Chaudhry
Journal:  MedGenMed       Date:  2006-03-22

Review 3.  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

Review 4.  Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.

Authors:  Chih-Yung Tang; Tsung-Yu Chen
Journal:  J Biomed Biotechnol       Date:  2011-12-01

5.  Searching for novel anti-myotonic agents: pharmacophore requirement for use-dependent block of skeletal muscle sodium channels by N-benzylated cyclic derivatives of tocainide.

Authors:  Annamaria De Luca; Michela De Bellis; Filomena Corbo; Carlo Franchini; Marilena Muraglia; Alessia Catalano; Alessia Carocci; Diana Conte Camerino
Journal:  Neuromuscul Disord       Date:  2011-07-29       Impact factor: 4.296

6.  Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Authors:  In-Soo Moon; Hyang-Sook Kim; Jin-Hong Shin; Yeong-Eun Park; Kyu-Hyun Park; Yong-Bum Shin; Jong Seok Bae; Young-Chul Choi; Dae-Seong Kim
Journal:  J Korean Med Sci       Date:  2009-11-09       Impact factor: 2.153

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.