Literature DB >> 25118992

Treatment and management of neuromuscular channelopathies.

Lydia Sharp1, Jaya R Trivedi.   

Abstract

OPINION STATEMENT: Neuromuscular channelopathies are heterogeneous disorders with marked phenotypic and genotypic variability. These include non-dystrophic myotonia (NDM), periodic paralysis (PP), and congenital myasthenic syndrome (CMS). Their diverse clinical manifestations remain a challenge in diagnosis and management to this date. These disorders impact quality of life and cause lifelong disabling symptoms. Treatment options are few and not FDA-approved. This is largely due to a paucity of large, randomized clinical trials in these rare diseases. Challenges of conducting such trials include the rarity of these disorders and the genetic heterogeneity. Physicians rely on off-label use of drugs to treat muscle channelopathies to reduce morbidity and improve quality of life. Besides pharmacological treatment, dietary modifications, lifestyle changes, awareness of triggers, and genetic counseling also play an important role in long-term disease management. This article reviews the current management strategies for neuromuscular channelopathies.

Entities:  

Year:  2014        PMID: 25118992     DOI: 10.1007/s11940-014-0313-6

Source DB:  PubMed          Journal:  Curr Treat Options Neurol        ISSN: 1092-8480            Impact factor:   3.598


  52 in total

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Authors:  A Berardinelli; K Gorni; S Orcesi
Journal:  Muscle Nerve       Date:  2000-01       Impact factor: 3.217

Review 2.  3,4-diaminopyridine for the treatment of Lambert-Eaton myasthenic syndrome.

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Review 3.  Clinical practice. Initial management of epilepsy.

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Journal:  N Engl J Med       Date:  2008-07-10       Impact factor: 91.245

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Journal:  Pediatr Neurol       Date:  2010-05       Impact factor: 3.372

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Authors:  P Wang; T Clausen
Journal:  Lancet       Date:  1976-01-31       Impact factor: 79.321

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Authors:  M C Dalakas; W K Engel
Journal:  Muscle Nerve       Date:  1983 Mar-Apr       Impact factor: 3.217

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Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

8.  The investigational anticonvulsant lacosamide selectively enhances slow inactivation of voltage-gated sodium channels.

Authors:  Adam C Errington; Thomas Stöhr; Cara Heers; George Lees
Journal:  Mol Pharmacol       Date:  2007-10-16       Impact factor: 4.436

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Authors:  V Sansone; G Meola; T P Links; M Panzeri; M R Rose
Journal:  Cochrane Database Syst Rev       Date:  2008-01-23

10.  Correlating phenotype and genotype in the periodic paralyses.

Authors:  T M Miller; M R Dias da Silva; H A Miller; H Kwiecinski; J R Mendell; R Tawil; P McManis; R C Griggs; C Angelini; S Servidei; J Petajan; M C Dalakas; L P W Ranum; Y H Fu; L J Ptácek
Journal:  Neurology       Date:  2004-11-09       Impact factor: 9.910

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  1 in total

Review 1.  Skeletal Muscle Channelopathies.

Authors:  Lauren Phillips; Jaya R Trivedi
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

  1 in total

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