Hi Jan and thanks for getting back to me.

During my discussions with the specialist she did suggest that there were other medication types that could be available however they come from other countries and you need to submit a case to get access to them.

I will keep an eye out for personality changes and my Mum and I sat and read through the insert just to make sure we understood it.

I will have to play it by ear and see how i get on, I am due to visit the hospital again in December when they hope for some results to be due back in.

This is my fear exactly, that an employer could consider that you are under the influence of something, this was also the catalyst for me to go out and seek medical advice.

Thanks for the tips in terms of diet and supplements, I will have to have a good trawl through the threads to try out some suggestions.

I skateboard once a week for a few hours which can be quite an intense period of activity, i can often end up feeling very sore and stiff for the rest of the week if i exert myself too much.

i'll keep in touch!

Andrew

Type of Myotonia: Myotonia Congenita

Country: Scotland

I used to really want to be able to skateboard when I was younger but that was an impossibility. But my legs were very severely affected.

Like your sister though, I can usually feel it coming on.

Type of Myotonia: Becker

Country: USA

Hi Jenna,

Some nights that I go skateboarding I am really loose and limber then other nights I am locked up and just can't move.

This can be pretty dangerous at times and I have locked up mid-air before and ended up seriously tearing tendons and ligaments in my right ankle.

I have even tried types of meditation an hour or so before I go out just to see if it helps me to relax and I must say that I have found this can help, the anticipation and excitement of going out skating can often make me seize up.

Andrew

Type of Myotonia: Unknown

Country: United Kingdom

Hello Andrew.

I used to enjoy playing football and field hockey when I was younger but I was always limited by the MC.

I was on Mexitil until it became too difficult to source in the UK, I'm now using Flecainide which is wokring and not, as yet, producing any side-effects. It is not 100% effective but it is a lot better than having no relief whatsoever.

Type of Myotonia: Becker's

Country: England

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

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