I first started showing signs at the age of 7. As my eldest brother and sister had already been diagnosed - it was obvious what I had. They were 10 and 13 years older than me. My other brother and sister do not have it. There is also absolutely no trace of it in any of our Children or Cousins etc. We come from a very large family - and all my immediate family have had Children - most of who'm are very academically successful.

My brother's wife was a geneticist and became convinced that BOTH Parents would need to have the defective gene for it to be passed on. The history of our family is one that is geographically extremely well scattered throughout the UK. I believe that this has contributed to the fact that within 4 or 5 generations involving well over 100 close relatives only my brother sister and myself have shown any symptons of the disease.

Although I realise that there are various different types of MC ( I was told we had Thomsens Disease - though I can't recall what type ), I suspect that there are geographical areas throughout the World where the incidence of the genetic defect is relatively high - and other areas where it is extremely low.

Dependent on the type of MC, if you come from a community that has historically been relatively isolated (the opposite of say New York or London) then there may be a much lower chance of it being passed on to your children if you choose a partner from a completely different area.

Incidentally I'm over 50 now and have never taken any medication for it except cannabis. I don't smoke every day or I would never be able to do any useful work and would probably go psychotic. I don't buy it because the stuff that people have given me at partys is much too strong and makes me pass out and feel sick (for all I know it could be contaminated). So I grow my own illegally, risking several years jail if caught even though its purely for my own use for medical reasons. I know it works, because when I go abroad, I have to go without it and after a few days my myotonia gets very much worse and I regularly have to hold on to my wife. I am at continual risk of a massive lock up if I trip or someone pushes into me.

I certainly wouldn't recommend cannabis for everyone with MC, but I believe that 3 mild joints a week works well for me and is much safer than for example procainamide. My sister took this for over 20 years. It was much more effective than cannabis - however its side effects were far worse. She died of a very rare lung cancer - yet had never smoked. I'm not convinced that this was unrelated. I can remember reading about procainamide over 30 years ago - and decided that it wasn't for me.

I think the most important thing, to minimise the symptoms is regular exercise and avoid becoming overweight.

I've never formally declared it and have largely managed to bluff my way through life. I've done lots of things that I would never have been allowed to do if I told the truth - including some dangerous sports.

But its my life and its the only one I've got. Despite the dangerous sports, my MC has never harmed anyone - not even myself. Though I guess I've been very lucky with some of those lock ups on holiday. Being paralysed for 10 seconds isn't much fun.

Charlie,

It sounds like in your case your sister-in-law was right. You most likely have Becker's myotonia congenita and both parents do have to have the recessive gene. Fortunately it's hardly ever passed on to children unless it is a community with a lot of intermarriage of families and the recessive gene pops up more often.

With Thomsen's you have a dominant inheritance pattern and only one parent is needed to pass it on, so it runs about 50% through families and shows up in nearly every generation.

About cannabis, I've been trying to interest GW Pharmaceuticals in the UK, the makers of Sativex which is a cannabis derivative (the latin name for hemp is Cannabis Sativa), to do a trial with MC patients in the UK. It is used for MS symptoms but should also help us as you indicated because it stimulates the chloride channel. So far I don't get any response from them, but maybe if several of us send in e-mails they'll respond.

Here's the e-mail address if you want to give it a try: info@gwpharm.com

There is another drug called Marinol used for MS which is a synthetic version. However researchers seem to think the there are other beneficial components in the natural formulation, including some which help minimize the "high" from the THCs.

The FDA has accepted an application for approval in the US, but it will probably be years before the testing is completed so in the meantime those of you in the UK will probably be the only ones to benefit.

One of my biggest concerns about medical marijuana in the US (aside from the fact that it's illegal in about 40 states) is the lack of standardization. This can lead to contamination, varying potency, etc. Sativex is carefully grown and harvested and has a standard potency.

Thanks for sharing -

Jan

Jan,

Both my brother and sister were diagnosed with Thomsens Disease - not Beckers. This would be about 50 years ago - and they actually took a great deal of interest in it. If the diagnosis was correct (we saw top specialists), then shouldn't 50% of our children have inherited the disease? There is no trace of it in any of them - or their children. My brother, sister and I with MC had 8 children.

I am a little puzzled now - because my brother's wife who was working as a geneticist at the time they got married totally convinced the entire family that the chances of it being passed on were minimal - because she believed both parents must have the same genetic defect (even though they showed no symptoms).

Of course its possible our diagnosis was wrong and maybe she reached the conclusion based on there being no family history.

For what its worth - here are my symptoms. Based on the following would you think it's Thomsens or Beckers? (I'd never heard of Beckers till I read it on this website)

1. No pain
2. If I clench my fist from a state of relaxation - its very slow to open - for the first attempt - but then becomes normal
3. To get up from a seated position after a period of relaxation - I need to tense my muscles for about 10-20 seconds or I will be extremely slow to stand up and walk - and it will look obvious.
4. I'm slow up the first flight of stairs if I don't tense or exercise in advance - but by the second flight of stairs I can walk up at normal pace. I probably can still run upstairs after several flights (though I haven't tried that for a long time)
5. Not affected by cold weather.
6. It does vary from one period to another. Tiredness makes it much worse as does too much alcohol the following day (not at the time of drinking)
7. Hard exercise repeated daily - can make it worse for the first 2-3 days - but then it will significantly improve.
8. A hard unexpected push from someone or big trip can cause almost my entire body to become paralysed for about 10 seconds. Sometimes I can save myself from falling if I've got someone or thing to grab onto. In reality this has probably only happenned about 10-15 times in over 40 years - and only seriously embarrassed me about 3 times (once it happenned with a girl I'd just met) and fortunately never caused me serious injury.
9. Absolutely no problem driving. I've had no accidents whatsover for about 30 years and my only insurance claim has been for theft.

Thanks for running this website. It's a great resource.

Charlie,

I don't think they even knew there were two types of myotonia congenita 50 years ago. And even now most people are diagnosed with Thomsen's because that's what the older texts say.

Based on your family history it is most certainly Becker's. Siblings can show symptoms, but no other generations will appear to be affected even though there are carriers. An EMG will not detect a carrier of the recessive gene...only DNA testing would do that.

With 8 children, statistically 4 should have inherited the MC if you had Thomsen's. Also with Becker's there tends to be a total body stiffness and in Thomsen's the stiffness is more localized to certain areas like legs, hands, face, diaphragm, etc.

Having said that there are over 60 mutations of the two types, and each mutation probably has its own quirks. If you want to get tested just to be sure, look for the post about the new lab in North Carolina.

Jan

Jan,

Thanks very much. After spending many hours googling on the subject, I agree that I must have Beckers and not Thomsens.

In my search I found that there is a clinical trial for MC that has recently been recruiting patients across the US - and also has a research centre in London...

http://www.clinicaltrials.gov/ct/show/NCT00244413;jsessionid=4DBFADA27259E03517FC6131EB4B76BC?order=1

I am trying to pluck up courage to contact them, and may do so after I have given it some thought.

The main reason for not doing so, is that I don't think I've ever been officially diagnosed, and don't believe that MC appears in my medical history. If I formally "come out" by taking part in a trial then I may have serious issues with medical insurance, for travelling abroad - something that I do a lot.

I'm also not sure that I want to be a "guinea pig". Both my brother and sister went through this process, and I'm not convinced the experience didn't shorten both their lives.

Whilst I'm aware of some brilliant achievments of the medical profession in resolving very difficult problems in people I personally know, I'm also aware of just as many disasters where medical treatment has been totally disabling for conditions that were not that serious before treatment.

I'm very fortunate in not having had any serious illnesses since I was a child, so touchwood I think I'll carry on keeping my distance from the medical profession and the vast array of drugs that they seem very keen to dispense after 5 minutes consultation.

The time may well come though, when I really will need some form of conventional medical treatment and its encouraging to know that research is ongoing.

In the meantime, I've decided to lose 10 pounds and do a lot more exercise as I've been a bit lazy over the winter months.

Roll on summer. It's still very cold in the UK which is unusual for March.

Jan,

Well I made a start on the exercise simply by walking up and down 2 flights of stairs for 15 minutes. I gradually got faster and faster until I was close to running speed upstairs which I doubted I could still do.

As a matter of interest I tested my blood pressure both before and after the exercise.

I was quite astonished that the exerecise caused my blood pressure to decrease very significantly. Obviously my pulse was much higher but my blood pressure was the lowest I've ever measured (still safe but certainly on the low side).

This was the exact opposite of what I was expecting and I'm somewhat puzzled.

The exercise made me feel quite happy and elated. I must do it more often.

Charlie,

I love to exercise and usually feel okay at the time...it's a few hours later and the next day or two that really get me!

A comment on the blood pressure - it's pretty normal for the diastolic (second measurement) to drop during exercise. However if the systolic drops significantly you should get it checked out. Also if you stop exercising suddenly and take your BP it can drop quite drastically.

We used to have to run bleachers in PE class which I always dreaded. Sometimes I get stiff as I start moving and would fall. Then I'm okay till I stop for a while and the myotonia kicks in. Part of this has to do with increased insulin levels from exercise. Since I changed my diet I hardly ever have symptoms any more but I do still keep my exercise routine very moderate :-)

Jan

What triggers big changes in my blood pressure is what is going on in my mind. For example I think I got the highest reading ever after completing a tax form. I can bring it down to very low levels through deep breathing/meditation.

I very rarely go and see my Doctor but when I do - my reading always shoots way above its normal level - simply because I don't like him for how he treated my Mother (well actually he wouldn't even examine her).

I guess I should get another Doctor.

Hi everybody.. Im new to this site.. have had MC since birth, and i need a whole book to detail the long road to recovery,and management for this illness which has blighted my life.. Im now 60..and feeling a lot better because i dont have to live up to the expectations of ''well'' people, or be stressed out with the demands of a family. I am responding today, because of your mention of procainamide.. and your experience with smoking dope..
Firstly, I was on procainamide for 10yrs.. the 3 times daily dose was far too much, and i ended up with just a morning dose..I had terrible withdrawal symptoms which used to kick in around 6pm, just as i needed to be cooking for the family etc.. I was continually grumpy and screaming at the kids.2 of which have MC..I started having joint pains, in fact i was in agony 'in my bones', and eventually i said, enough is enough, and i went cold turkey. I met, or was led to, a naturopathic guru, and was forbidden all usual chemical drugs.. I have managed to detox my body over the years, and take homeopathic remedies for absolutely everything..I avoid everything that could bring on an attack, including stress.. but we all know that MC has a mind of its own, and does what it wants, when it wants.. i have had to tailor my life accordingly.. I basically find i cannot keep up with the healthy, and to a degree, this has slowly led me to quite a solitary existance now that i have empty nest, which i enjoy within the confines of the illness.
My second point relates to your mention of marihuana. I have always maintained that i could not have coped without smoking dope.As a 'hippy' in the good old days, i was a late smoker..didnt know about it till my thirties..and in those days it was new and good fun.When my guru stopped me smoking nicotene, i found a way round it by smoking herbal cigs made of Coltsfoot and Rose petals. There are plenty of herbal cigs nowadays.. Of course, I cannot smoke the new hybrid stuff, Skunk...nor any rubbish solid stuff.. but natural grass, has been my saviour for 30yrs.It helps me shut off the strain of coping with a MC affecting my whole body.. from my tongue to my toes.. i have cramps in places[ like behind the ears]where i was unaware muscles exist.
So i am pleased to hear of someone else who finds it helpful...
At some point i will tell my story too..in the meantime i am blown away to link with fellow sufferers. Love Vicky..in London. England