Hi there folks, I am 23 years young and have experienced muscle stiffness for as long as I can remember and I never ever thought much about it. My muscles are affected all over my body, often affecting my speech as well as my legs, arms and eyes.

Recently I seem to have more pronounced symptoms and these can often be very embarrassing, for example I was in a meeting for a promotion with a Regional Manager and I found it very hard to communicate due to the stiffness in my throat and tongue. The stiffness extended throughout my body and by the end of the meeting I nearly had to walk out of the room in a seated position as a result. My fear of course is that it could be mistaken that I am under the influence of illegal substances.

I have always been very much involved in sports specifically skateboarding and have had a couple of bad spills as a result of my muscle stiffness. Throughout my school years people have always commented ion my extremely pronounced muscles, particularly my calfs.

I had never gone to the doctors regarding my complaints due to the seemingly random onset of them, although i could say that nervousness and changes in temperature do have a considerable effect.

After talking with a work colleague who is very health conscious he convinced me that I should go to visit my GP. My GP very quickly referred me to our local hospital's Neurology Ward where i went through some physical muscle checks and had blood taken in.

After a couple of months I received a letter to attend an appointment in Glasgow's Southern General for an EMG, it was during this test that I was diagnosed with Myotonia Congenita as the clearly audible dive bomber sound was produced.

I have since returned to the Glasgow Southern General where i met a specialist, we had a conversation of my family history and again carried out further blood tests which are to be sent down to London to be analysed. The specialist also discussed medications that could be used that may potentially help reduce the complaints.

I am still at the very early stages of really understanding this condition and I have found it very interesting to read about others experiences, My younger sister also suffers from random stiffness but is still to visit the doctors. She does however claim that she can tell when it is going to happen where I can't. She also suffers less frequent instances of the symptoms.

I received a call from my local health centre today and was notified that I had a prescription that was to be collected, when I went down after work I had a short conversation with the Pharmacist who explained the drugs to me, which are Carbamazepine 100mg tablets, I was quite surprised to find that these tablets are also taken by sufferers of epilepsy.

So thats my story for now and I hope to be able to keep those of you who are interested up to date on my progress with the medication and also with the findings from my blood results that have been sent to genetics in London.

If you should happen to have any questions or suggestions please feel free to get in touch.

All the best

Andrew

Type of Myotonia: Myotonia Congenita

Country: Scotland

Welcome, Andrew! Sounds like you're getting a thorough workup. Hopefully you'll have DNA results soon so you'll knew exactly what type of myotonia you and your sister have.

Many drugs used to treat MC are epilepsy drugs. It's an indirect way of affecting the chloride ion channel function by blocking sodium channels.

Carbamazepine is not prescribed very often for MC any more. I think it just has too many side effects, particularly in younger people. Be especially watchful for any signs of personality change like depression. It would personally be my last drug of choice to treat MC.

Mexiletine is the top choice but it's probably not available to you in Scotland, and many doctors still prescribe Dilantin (acetazolamide), Dilantin (phenytoin) and more recently Flecaine (flecainide) and Lamictal (lamotrigene). All medications have some side effects so it can take a few tries for some people to find out what works best.

I also had severe stiffness of my tongue and often sounded drunk. I have been able to alleviate symptoms by changing my diet, learning biofeedback techniques to control stress responses, and and taking a few supplements that are helpful including licorice root extract and Acetyl-L-Carnitine.

Be sure to read the product insert carefully on the Tegretol and be careful driving for the first several days. Your body will adapt as you take it so that the dizziness and drowsiness lessen.

Keep us updated!

Jan

Type of Myotonia: Thomsen's

Country: USA

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