If you read through the older posts you'll find lots of tips on how to live with MC. It's always a bit depressing to find out you have a condition that will never go away, but we have good careers/jobs, raise families, and some even play semi-professional sports.

The most important thing you can do to reduce the stiffness is to learn to stop and let your muscles relax before taking a step. When you first get up out of a chair, wait several seconds before you start walking. If you're going up stairs, you may need to pause between steps. I know this is embarrassing, but now that you understand you have a condition that keeps your muscles from relaxing as quickly as a normal person, you can explain that to others. If you force your muscles to move while they are stiff, you will tear the muscles and that will make myotonia worse and cause pain.

I find that if I drink a few sips of liquid before I start eating, I don't choke as easily. Sneezing is always a problem, especially if you are driving. Try not to squeeze your eyelids shut when you sneeze - keep your eyes open if possible.

I'm not sure what you mean about mental strength. I know in many countries it is very difficult to live with a disability. You are considered defective and are made to feel less valuable as a person. Hopefully that is not true for you, but if it is, that can cause depression. Myotonia congenita does not affect intelligence, but many people confuse MC with myotonic muscular dystrophy which can cause mental retardation. It's important to focus on the things you CAN do. Always focusing on the negative aspects will just make you frustrated and unhappy.

There are several medications you can try. I don't know if you can get mexiletine in India now, but that is the most effective. The others are acetazolamide, phenytoin, flecainide and quinine sulfate. You need to see a neurologist who is familiar with myotonia congenita to get the correct treatment.

If you go to the main website (click on "Return to Website" above) you will find some letters that are very helpful in explaining myotonia congenita. You can give copies to your friends, family and teachers.

Jan

Type of Myotonia: Thomsen's

Country: USA

Nikhil:

The first thing you might want to do is try to get your disorder genetically typed. There are a few different disorders that can cause myotonia, and the treatment/management varies slightly for each.

In the United States this testing is fairly expensive, however it might be more affordable in India. If you have the resources you might want to see a specialist at one of the big hospitals or universities and tell them you would like to be tested for Myotonia Congenita on the CLCN1 gene and myotonia on the SCN4A gene.

If that's a big financial burden, don't worry, you can find ways to manage symptoms without testing, it just takes more trial and error. Becker Myotonia Congenita, the recessive form of the myotonia caused by mutations on the CLCN1 gene seems to be the prevalent myotonia causing disorder in India. If that is what you do have, then try moderate exercise regularly. Walk for 40 minutes a day. This might make the myotonia temporarily worse, but after a few months, you might see an improvement in symptoms.

Also, don't push against the myotonia. Let your muscles relax before you try to move again. Try to prevent yourself from tensing your muscles beyond what they will tense on your own, much like you might do during meditation. If you play sports, keep moving to keep yourself warmed up. For example if you are a goalie in soccer/football you should literally dance around until the ball comes your way.

There are also various medications you might look into. The most successful one with Myotonia Congenita is Mexiletine. It's difficult to get though, and you must have your heart checked by a cardiologist first, and have a cardiologist monitor you while on it, or it could kill you.

The other medications I'm not as familiar with.

I manage my symptoms by regular exercise.

Type of Myotonia: Becker

Country: USA

Hi, I'm still in testing with my neurologist to figure out what sort of Myotonia I have right now.
I've noticed it (mostly in my legs & tongue stiffness I didn't know was related) for many years.
In November, had trouble for a few mornings with swallowing, and that was scary! That's when I decided to go see a doctor about it. I thought omg I'm dying!

Some things that have helped me with myotonia and stiffness.
Medicine! - I have Mexiletine. It definitely works, but I am not taking it lately because my myotonia is not very problematic (just in my legs sometimes after exercise). But when the weather gets cold again, if my myotonia starts flipping out, then I will take the presciption.

Supplements! - Everyday I take CoQ10, Vitamin D (4,000 IU) & E. I think it makes a difference because my tongue hasn't been stiff in months, pretty much since about the time I started taking it, and I notice it when I forget to take it for a few days. I think it really helps me a LOT. Either way, I'm not on the medicine :)

Exercise! - This is the very best thing that has helped me over the years.
Specifically incline cardio work. Climbing climbing climbing.
In 2006, I had a LOT of time on my hands and a park, the park had a VERY steep path down to the waterside. It was long, the steps were steep with a distance of about 2 normal per each.
I had my first sit down job, I grazed on chips and candy. I had gotten fat, fast!
It hurt like hell to walk fast. I had a lot of weight to lose and just walking wasn't doing it. The first time I climbed the steps I felt like I might have a heart attack! I thought, omg they should have a sign warning visitors! But they didn't. So I guessed it must just be me. Embarrassing.
So they became my new challenge!
I started climbing them every morning. Once each morning for a few weeks. Then two times each morning...After a few months, I was able to climb them as many as 5 or 6 times a day on weekends! I was obsessed with it. I could physically SEE the difference in my body before I left home and when I returned. I sooo miss that park! But what I'll say about it, extremely effective exercise that really builds strength in the legs like that, dropping ALL my excess weight to the point where I can physically run pain free, and feel like I can climb a mountain without breaking a sweat = NO MYOTONIA whatsoever.

Sorry I'm so talky. But those things I have personally noticed help with mytonia.
What have you noticed that has helped you?

Type of Myotonia: Myotonia

Country: USA

Yesterday morning I was slicing butternut squash using a mandoleen (sp?) for yummy hashbrowns - IF YOU HAVE A MANDOLEEN, THROW IT AWAY IMMEDIATELY!
Trying to slice a whole butternut squash is like trying to slice a rock, so I put a LOT of muscle into it! Well, being that I don't have a lot of practice with a mandoleen, at one point my pinky went through with it, and I very nearly sliced off the entire tip of it - including the nail! UGH!
Thankfully, i even sliced some of the nerves so it didn't hurt as bad as it could have.
The doctor at the urgent care clinic was happy to inform me that she could stitch it up fine. I got a tetnus (sp?) shot, and the stitching was soon underway!

During the stitching of my finger, although it was 100% numbed, I was thoroughly uncomfortable getting surgery on my pinky (I'm a female and easily freaked out about something like my pinky chopped up!) so I talked about something else to distract my attention.
I'm new to learning about myotonia and CK levels so I'm not an expert on this, but I figure, because my CK levels run high regularly (as a result of the myotonia), I'm assuming this could potentially cause a lot of stress on my kidneys over the longterm. So I asked the DR, what can I do?

She isn't a neurologist, but she's been a doctor for 34 years, and she's super intelligent!
The first thing she said was CoQ10. Wow great! I explained I've been taking it, for a few months and it seems like it was helps with my myotonia.
She was convinced it is linked. She explained that the myotonia is most likely caused by a deficiency of CoQ10, our bodies already produce it, but in my case, there's a deficiency present (and she explained why that is, but I didn't have the foresight to bring a notepad to wrack her brain while she performed intricate surgery on my pinky, yet now I wish I had) which makes the supplement crucial.
She gave me a list of things in fact and they were -
CoQ10
Magnesium
Lots of Stretching
Eliminating Milk and Wheat (she said some people are sensitive to them and get inflammation)

We also discussed the problem with Iodine, but in my case, I absolutely need it for my thyroid function, as I've been through menopause early in life.

She was convinced that by following those steps, it should help eliminate the myotonia.
Keep in mind, this is not a cure, because you can't "cure" a deficiency in your body. It is something to address the symptom of myotonia only!

But if these things work for me, wouldn't it be 100% more helpful than a medicine that could potentially wreak havoc on my liver over many years to essentially achieve similar results (plus mexiletine does come with an impressively large laundry list of potentially harmful side effects - up to and including death in some cases)?
Now, there may be many people here with a lot more experience, who have tried it, AND disproved it, I don't know, but I'm already half way there as these steps are incredibly easy to incorporate into my own lifestyle. AND, I've already recently eliminated wheat (because it makes you fat and your body age, and when I mentioned that to the doctor, she confirmed it and gave me the reasons why it happens).
Also, I'm convinced, that in my case, this will at the very least make a big difference and it is exactly what I was looking for!

Again, I apologize for being so talky, but it's just not a good story without full explanations right!

Type of Myotonia: Myotonia

Country: USA

Hi Snuffy:
Sorry about your finger. The good news is, humans can actually regenerate finger tips, nail and all, at least with a little help.

Here is one story on it:
http://www.cnn.com/2010/HEALTH/09/09/pinky.regeneration.surgery/index.html

Myotonia is only a symptom of myotonia congenita. It can also be a symptom of a few other disorders.

Most people with a diagnosis of myotonia congenita either have defects on a gene called SCN4A or a gene called CLCN1. These genes make things skeletal muscle ion channels. You can think of the ion channels as little doors or portals in the wall of the muscle cell. Their job is to shunt certain types of ions into or out of the cell.

SCN4A makes sodium ion channels. These are little "doors" that let sodium ions into the muscle cell. This ultimately causes the muscle to contract.

CLCN1 makes chloride ion channels. These are little "doors" that let chloride ions into the cell. Their job is to interact with the sodium ions, causing the "power" to "turn off" and allow the muscle cell to relax.

People with SCN4A mutations that cause myotonia are said to have sodium channel myotonia. This encompasses a few slightly different disorders called Paramyotonia, potassium aggravated/acetazolamide responsive myotonia, and certain forms of periodic paralysis.

People with CLCN1 mutations that cause myotonia are said to have chloride channel myotonia. This encompasses the dominant form, Thomsen's Disease, and the recessive form, Becker myotonia congenita.

Sometimes thryoid problems can cause something called neuromyotonia, though it isn't true myotonia and resolves with treatment of the underlying disorder, and then there are more exotic disorders that cause myotonia or myotonia like symptoms, such as Anderson-Tawil Disorder, Stiff Person Syndrome, and Brody Myopathy, the first which also entails other physical defects, and the last which is actually due to a problem with an enzyme called ATP, which essentially causes something akin to rigor mortis while the person is alive...at least from my understanding...it's very very very rare.

Concerning butternut squash, in my experience it's easier to just buy it frozen and chopped.

Type of Myotonia: Becker

Country: USA