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hi pete

hi pete,thanks for replying to paige,i am her mum joanne,sorry to here that you have mc so severe.paige is coping really well with hers at the moment but i have been reading quite a lot on the internet that can be quite scarey.Do you have a medical band to let emergency services know that you have mc and do you know anything about anasthetic and the side effects it may have.Paiges consultant doesnt seem to be able to tell us much about what to expect for the future as she has not come accross anyone with mc before.Thanks

Type of Myotonia: becker

Country: England

Re: hi pete

Joanne:

People with genetically confirmed myotonia congenita, which is due to mutations on the CLCN1 gene, need to avoid a drug called succinylcholine, also called suxamethonium, and sometimes by one of it's brand names, Ancetine, and may need to avoid similar drugs as well.

Succinylcholine is not an anasthetic but it's often used during the course of anesthesia when intubation is necessary. In people with myotonia congenita, it can cause what is known as a masseter spasm, where the jaw clamps shut and they are unable to open it to get the breathing tube in. This is very dangerous as the placement of the breathing tube is usually done after the person has been sedated and has stopped breathing sufficiently on their own.

There are additional reports of secondary breathing difficulties and muscle rigidity when this drug was administered to those with MC, however it was not considered malignant hyperthermia because there was no run away rise body temperature or metabolic breakdown.

Never the less the drug can cause life threatening reactions in those with MC.

Those with myotonia which has not been genetically typed should assume they are susceptible to developing malignant hyperthermia and should avoid all of the triggering agents, not just succinylcholine and similar drugs, because they may actually have myotonia caused by an SCN4A mutation, which is still thought to carry an increased risk of developing the reaction.

Some doctors may prefer to treat those with genetically typed CLCN1 myotonia congenita as if they are at risk for developing malignant hyperthermia because of the limited amount of data available on the matter. Personally I think this is a good idea for a few reasons.

1. People with myotonia congenita caused by CLCN1 mutations can have life threatening, malignant hyperthermia type reactions to certain drugs, as highlighted above.

2. The largest study which concluded people with myotonia congenita were no more susceptible to developing actual malignant hyperthermia than the general population was done on pigs with the equivalent of the disorder, and while pigs are very close to humans physiologically, they still aren't humans.

3. There are over 80 mutations that can occur on the CLCN1 gene that cause myotonia congenita, and they can cause it in different ways, which might affect how the individual responds to different drugs.

4. There can be a lot of variability in symptoms even between individuals with the same mutations, which suggests there are other factors which control how the disorder manifests, and which might affect how those individuals respond to different drugs.

5. There are usually a lot of alternatives to drugs that might cause a problem anyway and some of them are actually more ideal over all once the doctor considers them. I had a procedure a while back which they usually use general anesthesia for but the doctor decided that the reversal agents for the alternatives to succinylcholine might cause as much of a problem as the succinylcholine, so if he intubated me I would have to be on a ventilator for five or 6 hours afterward.

We decided on an epidural/spinal and some versed instead and I have no complaints. It was a lot better than being on a ventilator and then sleeping for 10 hours.

If your daughter is going to have any procedure she should request to speak to the anesthesiologist ahead of time because they will need time to review the material on the disorder and arrange alternatives if they need to.

She should also wear a med alert bracelet stating that she has myotonia congenita and can't have succinylcholine or might be at risk for malignant hyperthermia, in case she is in an accident or anything like that and needs to have surgery or be intubated.

Type of Myotonia: Becker

Country: USA

Re: hi pete

Hello Joanne.

As you can see Jan responded with a very good post that gives you all the technical details about MC (she's very good at that!)

I've never worn a medical alert band, perhaps I should? No one ever suggested that I should but then I only found out about the problems with anaesthetics recently. I've been very lucky, I've had lots of major surgical procedures to date and nothing ever went wrong but I do now take a handout with me to hospital whenever I go, one that paraphrased from jan's that you can read on this site.

I don't know how severe your daughter's symptoms are, it seems to be different with every individual. As a child mine were noticable but I was still able to participate in sports, but I sufffered with stiff limbs for an hour or two afterwards.

Climbing stairs was always a problem, up and down, as was getting up from a seated position after some time spent in repose.

I think that the best way forward is to make sure that Paige's teachers understand her condition, use Jan's letter and hand it to each of them as well as dropping one off in the school office for her file. It is a mistake to be in denial about it and possibly dangerous too.

Let Paige decide for herself what she can and cannot do; she's the expert when it comes to her own MC! If you feel that she is using it as an excuse not to do something that you beleive she is capable of then talking about it rather than forcing her to do it is probably the best way forward. There may be another reason, such a teacher not appreciating her problem or other school children making fun of her; sadly they will do that.

Don't panic!

Kids are amazingly resiliant if we, the adults, give them half a chance. Experiencing new things, be that sports, school trips, appearing in school plays, all come with difficulties for a child with MC but if she tries any of them she will probably enjoy herself regardless of the MC. If she does that her confidence will grow and she will become that much stronger. It calls for some courage on your part as a parent but you have to have faith in her.

Finally, talk about it! This website never existed when I was growing up in the 60's and 70's; my parents had no one to talk to! They still did a pretty good job. The people on here are a well of sage advice and there will probably be no experience that someone can't identify with and give you some comforting words.

And that's about it, except to say that for a person with MC the chance of having a 'normal' life is just as real as for anyone else. I've travelled, been to university, got married and had children, go to watch football every other Saturday, been to music festivals, worked since leaving school and, the one achievement that amazes everyone; I've actually flown an aeroplane!

I hope Paige has just a good a life and I think with such a good parent she will.

All the best!

Type of Myotonia: Becker's

Country: England