Literature DB >> 16741331

Myotonia congenita--a successful response to carbamazepine.

M R Savitha1, B Krishnamurthy, Abbas Hyderi, Nallur B Ramachandra.   

Abstract

Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. We report a 10-year-old girl with myotonia, "Herculean appearance" and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity which can be easily controlled with medication and also prevented by genetic counseling.

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Year:  2006        PMID： 16741331     DOI： 10.1007/bf02758569

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Myotonia congenita: response to carbamazepine.

Authors:  S R Sheela
Journal:  Indian Pediatr       Date:  2000-10       Impact factor: 1.411

2.  The treatment of myotonia: a controlled clinical trial.

Authors:  P LEYBURN; J N WALTON
Journal:  Brain       Date:  1959-03       Impact factor: 13.501

3.  Muscle pathology of myotonia congenita.

Authors:  J Crews; K K Kaiser; M H Brooke
Journal:  J Neurol Sci       Date:  1976-08       Impact factor: 3.181

4.  Successful treatment with tocainide of recessive generalized congenital myotonia.

Authors:  E W Streib
Journal:  Ann Neurol       Date:  1986-05       Impact factor: 10.422

5.  Therapy of myotonia. A double-blind evaluation of diphenylhydantoin, procainamide, and placebo.

Authors:  T L Munsat
Journal:  Neurology       Date:  1967-04       Impact factor: 9.910

6.  The quantification of myotonia. A problem in the evaluation of new antimyotonic drugs.

Authors:  L Durelli; R Mutani; S Piredda; F Fassio; M Delsedime
Journal:  J Neurol Sci       Date:  1983-05       Impact factor: 3.181

7.  Myotonia congenita in a young active man: symptoms and physique tip the diagnosis.

Authors:  Kelvin T L Chew; Yue-Shuen Wong; Hock-Luen Teoh; Erle C H Lim
Journal:  Phys Sportsmed       Date:  2004-07       Impact factor: 2.241

8.  Becker's variant of myotonia congenita in two siblings--a clinico-genetic study.

Authors:  Kalyan B Bhattacharyya; P Sengupta; S Basu; N P Bhattacharya
Journal:  Neurol India       Date:  2004-09       Impact factor: 2.117

9.  Treatment of myotonia with antiarrhythmic drugs.

Authors:  H Kwieciński; B Ryniewicz; A Ostrzycki
Journal:  Acta Neurol Scand       Date:  1992-10       Impact factor: 3.209

10.  Carbamazepine versus diphenylhydantoin in the treatment of myotonia.

Authors:  G P Sechi; S Traccis; L Durelli; F Monaco; R Mutani
Journal:  Eur Neurol       Date:  1983       Impact factor: 1.710
  10 in total
  5 in total

1.  Treatment and management of neuromuscular channelopathies.

Authors:  Lydia Sharp; Jaya R Trivedi
Journal:  Curr Treat Options Neurol       Date:  2014-10       Impact factor: 3.598

Review 2.  Mutational consequences of aberrant ion channels in neurological disorders.

Authors:  Dhiraj Kumar; Rashmi K Ambasta; Pravir Kumar
Journal:  J Membr Biol       Date:  2014-08-14       Impact factor: 1.843

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

Review 4.  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

5.  Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs.

Authors:  Jean-François Desaphy; Roberta Carbonara; Teresa Costanza; Diana Conte Camerino
Journal:  Exp Neurol       Date:  2014-03-05       Impact factor: 5.330
  5 in total

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