Literature DB >> 23536309

The diagnosis and treatment of myotonic disorders.

Chad R Heatwole1, Jeffrey M Statland, Eric L Logigian.   

Abstract

Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing. Research interest in the myotonic disorders continues to expand rapidly, which justifies a review of the scientific bases, clinical manifestations, and numerous therapeutic approaches associated with these disorders. We review the pathomechanisms of myotonia, the clinical features of the dystrophic and nondystrophic myotonic disorders, and the diagnostic approach and treatment options for patients with symptomatic myotonia.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23536309     DOI: 10.1002/mus.23683

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN: 0148-639X            Impact factor:   3.217


  11 in total

1.  Zebrafish needle EMG: a new tool for high-throughput drug screens.

Authors:  Sung-Joon Cho; Tai-Seung Nam; Donghak Byun; Seok-Yong Choi; Myeong-Kyu Kim; Sohee Kim
Journal:  J Neurophysiol       Date:  2015-07-15       Impact factor: 2.714

Review 2.  Guidelines on clinical presentation and management of nondystrophic myotonias.

Authors:  Bas C Stunnenberg; Samantha LoRusso; W David Arnold; Richard J Barohn; Stephen C Cannon; Bertrand Fontaine; Robert C Griggs; Michael G Hanna; Emma Matthews; Giovanni Meola; Valeria A Sansone; Jaya R Trivedi; Baziel G M van Engelen; Savine Vicart; Jeffrey M Statland
Journal:  Muscle Nerve       Date:  2020-05-27       Impact factor: 3.217

3.  Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Authors:  David J Coote; Mark R Davis; Macarena Cabrera; Merrilee Needham; Nigel G Laing; Kristen J Nowak
Journal:  Eur J Hum Genet       Date:  2018-04-26       Impact factor: 4.246

Review 4.  Channelopathies of skeletal muscle excitability.

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

Review 5.  Treatment Updates for Neuromuscular Channelopathies.

Authors:  Nantaporn Jitpimolmard; Emma Matthews; Doreen Fialho
Journal:  Curr Treat Options Neurol       Date:  2020-08-22       Impact factor: 3.598

6.  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

7.  Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Authors:  Jean-François Desaphy; Concetta Altamura; Savine Vicart; Bertrand Fontaine
Journal:  J Neuromuscul Dis       Date:  2021

8.  Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.

Authors:  Simona Portaro; Concetta Altamura; Norma Licata; Giulia M Camerino; Paola Imbrici; Olimpia Musumeci; Carmelo Rodolico; Diana Conte Camerino; Antonio Toscano; Jean-François Desaphy
Journal:  Neuromolecular Med       Date:  2015-05-26       Impact factor: 3.843

9.  Integrative data mining highlights candidate genes for monogenic myopathies.

Authors:  Osorio Abath Neto; Olivier Tassy; Valérie Biancalana; Edmar Zanoteli; Olivier Pourquié; Jocelyn Laporte
Journal:  PLoS One       Date:  2014-10-29       Impact factor: 3.240

Review 10.  Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Authors:  Yifan Li; Mao Li; Zhenfu Wang; Fei Yang; Hongfen Wang; Xiujuan Bai; Bo Sun; Siyu Chen; Xusheng Huang
Journal:  Channels (Austin)       Date:  2022-12       Impact factor: 2.581

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