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Re: Me and Myotonia

Hi Peter and thanks for your response. I understand you must have felt pretty rotten. Nothing worse than sitting on the sidelines watching everyone else having a great time.

I received a letter yesterday that basically summed up the specialists notes in which she stated that should i have any negative reactions to the Carbamazepine I should be tried on Lamotrigine or Phenytoin.

This is my third day on the medication only at 50mg per day, which I am to increase by 50mg each week up to 400mg. Not noticed any dizziness as yet on such a small dosage.

Ironically on Tuesday i had the most loose and enjoyable skate in a long time.

All the best

Andy

Type of Myotonia: Unknown

Country: United Kingdom

Re: Me and Myotonia

Andrew, it's great that you're already seeing a response! I would suggest asking your doctor about staying on the lowest dose that gives you relief since you will develop a tolerance over time.

If you go to PubMed and do a search on carbamazepine and myotonia you will find lots of case studies. I'll paste one in below. It seems to work quite well for certain mutations.

Jan

Pediatr Neurol. 2010 May;42(5):365-8.

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Source
Greenwood Genetic Center, Greenwood, South Carolina 29418, USA. mlyons@ggc.org

Abstract

Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner. Both forms of myotonia congenita are attributable to mutations in the CLCN1 gene. Treatment with a variety of medications has led to long-term improvement in the clinical course of affected individuals. We describe a Honduran boy with myotonia congenita and a novel p.L287I mutation in the CLCN1 gene. The patient's unaffected father carries the same mutation, most likely reflecting autosomal-recessive myotonia congenita, with an inability to find a second mutation. The patient received carbamazepine treatment for 1 year, resulting in decreased muscle stiffness, increased strength, and improved quality of life in school and with peers.

Copyright 2010 Elsevier Inc. All rights reserved.
PMID: 20399394 [PubMed - indexed for MEDLINE]

Type of Myotonia: Thomsen's

Country: USA