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Re: which type?

Martone,

See if you can get the results from your doctor. It should say whether the mutation was dominant (Thomsen's) or recessive (Becker's) in which case there would be two mutations. You can email me the results if you like and I'll look them up for you. When they get the blood sample they extract the DNA and then look for mutations. It is the only way to know for sure which type you have.

Are you using any inhalers for asthma? Those can really worsen myotonia. So can supplements and beverages that stimulate the adrenals like coffee, tea, ma huang, gotu kola and several others. Also some medications can make the stiffness worse.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: which type?

Hi Jan, I just spoke to my mum this morning and sorry I got it wrong my mum did have the e.m,g but was not a carrier, I have now asked her about the blood results from germany and she said that it came back saying it was definately Myotonia Congenita but they could not find out which strain it was my parents went for the results from the neurologist without me because I was having a bad day, can you plz tell me from all the years of you running this website have you heard of such a case? I have massive calf muscles bigger than any Rugby player but my arm muscles are not muscle bound. All the videos I have seen of men with Thomens myotonia congenita have large arm muscles like an athlete but mine are not could this be a sign of Beckkers myotonia congenita?

Country: britain

Re: which type?

Martone:

If I had to guess based on the information you've given, I'd guess you had Becker Myotonia Congenita.

If you had Myotonic Muscular Dystrophy instead, you would probably have profound weakness and other health problems. They would also talk about CTG repeats instead of mutations.

Becker and Thomsen Myotonia Congenita are both caused by mutations on the human skeletal muscle chloride channel gene CLCN1, so are called chloride channel myotonias.

There are other similar disorders though called sodium channel myotonias, because they are caused by mutations on the human skeletal muscle sodium channel gene, SCN4A. Mutations on that gene cause disorders like paramyotonia and potassium aggravated/acetazolamide responsive myotonia. In some instances they can be indistinguishable from chloride channel myotonias by their symptoms, and sometimes they are somewhat improperly referred to as "myotonia congenita". There seems to be a tendency to sequence the CLCN1 gene first when testing for myotonic disorders and so if they only sequenced one gene it was probably the CLCN1 gene.

So, I have Becker MC with weakness, and what can't I do?

Well, I can't keep up with people 10 years younger than me. I can't write very quickly. I can't do a push up. I've had times when I couldn't sit up. I can't get my money in the slot on the bus when it's moving. I can't do gymnastics, skateboard, or anything involving acrobatics (without killing myself). I can't walk around amusement parks all day without my back and torso muscles fatiguing and cramping up painfully. I can't do yard work without episodic weakness and tremors in my arms and hands shortly afterwards. I'm not the best at doing dishes, waxing my car,or anything that requires upper body stamina. I would not be able to wait tables as an occupation, I would probably be fired very quickly if I were a cashier, and I can't jog but that has nothing to do with MC.

Is it worth worrying about? Sometimes. Especially when it puts you in a compromised situation because people don't understand, but I wouldn't want it to overshadow the things I can do, which is a much longer list.

Type of Myotonia: Becker

Country: USA

Re: which type?

Hi Jenna, thank you for replying to me, I think your right, I am a massive hypochondiac, sorry if I spelt it wrong, so I was 16 and it was a november and even though I knew my muscles were diffrent I would get them ready if I had to stand up and walk to say a printer from a computer because of the stiff ness I would tence them really hard then release so that I could walk without any lucks, I can run once I have got my muscles working but I am not fast but I have the stamina to beat my sister to a race to that point she smokes lol so the stamina is there but I guess the bulky build stops me being fast, so a lot of the doctors deal with other conditions and dont no much I see one that is very good and says he see's at least 7 other people with myotonia congenita he wasnt the one who diagnosed me he had only seen one this is my one I see once a year, anyway cause of the no family history he said he thought it was more likley Beckers than thomsans, now I have read that thomsens is milder stiffness and with no muscle weakness but it runs in family's I was just wondering Jenn, do you have kids? Because I was wondering if I had any kids in the future would they develop it, are you more chance or passing on to your kids if your thomsens? When a Beckers comes out of the blue with no family history what are the chances of that person male or female having kids with a myotonia congenita

Type of Myotonia: Beckers I think

Country: britain

Re: which type?

Sorry I meant to put, it was november 2004 and despite having this all my life and having fallen a few times a g.p examinded when I was a kid and said I was lazy and my family said it was in my head, but in november 2004 I was walking home from colledge and I stubbed my foot in a path and my body fell down first to my knees then to my torse and face hitting the pavement for a whole min I couldnt move at all, then once I was able to stand up I was embarres looking at the ppl who saw me fall and I ran and ran because once the stiffness had weaned off thats when my muscles feel like a normal person cause we have to warm up before we attepmt to do stuff, thats when I thought ok I want this problem diagnosed once and for all, but it was a long wait so my mind went crazy with searching the internet thinking is it this is it that will I be in a wheel chair by 30, I read about 50 muscles diseased and was scared stiff, no pun inteded lol but luckyly once month before the E.M.G I did read among the 50 one about thomsens and how the handshake is only slowley released grip so when he did the test and told me to make a fist and then release he said you have what we call thomsens and I felt a relif when he told me it wasnt going to progress because of all the other stuff on the internet I had read I was expecting the worst

Type of Myotonia: Beckers I think

Country: britain

Re: which type?

I don't have kids, but as Jan said, if my mutations were strictly recessive I would have to have kids with someone who was a carrier or had MC for them to have it.

If that person had two recessive mutations, all of our kids would have it. If they had one recessive or one dominant mutation, the kid has a 50% chance of getting that mutation from them, and they would get a mutation from me either way. So there would be a 50% chance the kid had it.

Both my parents are carriers so there was a 25% chance they would pass both of them on. I have three siblings and I kind of think my brother might have a latent case but I'm the only one with full blown myotonia.

But things aren't so simple in my family because both of my mutations have been found to be dominant mutations in some families. So even though in my family it seems to be recessive, there's a chance any kids I have could have symptoms even if they only inherited one of the mutations.

That kind of implies to me my mutations are "conditionally dominant" as I like to call it. Meaning if conditions are just right, you will see symptoms with just one mutation, but in most instances the conditions aren't just right and most people will need both of the mutations to have symptoms.

Type of Myotonia: Becker

Country: USA

Re: which type?

You can't know if your mother is a carrier of the recessive mutation without a DNA test. It would be really helpful if you could get a copy of your report. Many doctors don't know how to interpret it. If you have Thomsen's, there will just be one identified mutation. If you have Becker's there will be two: they can be two different ones or two copies of the same. The mutation code starts with a letter, then three numbers, then another letter. For instance mine is G230E. I can look the specific mutations up on a database to see if they are associated with Thomsen's or Becker's.

It is not unusual to have very hypertrophied calves and sometimes thighs, but normal upper body. It totally depends on your lifestyle, work, etc. The muscles that are pushed against more frequently are the ones that will respond by overdeveloping. (This is true in weight lifters, too.)

For instance if you live in a home with stairs or have to walk up stairs every day at work or school you're going to have larger muscles in your legs that someone who always walks on one level. If you stack boxes all day at work, you're going to have very large biceps compared to someone who seldom lifts anything but groceries. If you have a baby or toddler that you pick up all the time, that's going to cause the muscles in the arm to adapt by getting larger.

What causes the muscle to enlarge is stressing the muscle to the point that the cells are damaged and spill out their contents (which causes high cpk levels). As the muscle heals it adapts by increasing the muscle fibers that won't "tear" as easily next time. Unfortunately those types of adaptive fibers (called Type IIB) either aren't made or don't survive long in someone with MC, so we constantly are creating and destroying them.

If you learn to wait for the relaxation before you push against the stiff muscle, the hypertrophy will begin to subside over time. But most of us push against that stiffness to appear more normal after getting up out of a chair or walking up stairs, so it keeps the muscles stressed and enlarged.

As far as having children that are affected, that's where you need to get that report. If you have Thomsen's, then there's a 50% chance your children will inherit it. I have three daughters and two have MC. If you have Becker's, then there's almost no chance they will have symptoms unless their mother also happens to have a recessive mutation. This is more common in areas where there is a limited gene pool and people are likely to be distantly related.

Hormones do seem to have an impact on myotonia, and many people get worse from their teens to their 30s. As your hormone levels beging to drop, the myotonia may improve. You also can be affected by your diet, medications, chemicals like pesticides and herbicides and low thyroid. I improved dramatically when I started taking thyroid medication.

Because Prozac contains flourine that can make your myotonia worse. It's also not a good medication for younger people - it can actually cause the symptoms that it is given to relieve. I would definitely ask your doctor about trying lamotrigene since it would help with both anxiety and myotonia. You do have to get off of Prozac very slowly to avoid withdrawal symptoms. It can also cause hypothyroidism, which again, makes myotonia worse. Most doctors have no clue about this sort of thing and how it could affect MC. A safer antidepressant/anti-anxiety drug would probably be Effexor. Tell your doctor it's important that medications are not potassium-based and do not contain fluorine/fluoride. Some allergy medications can increase adrenaline output and make myotonia worse.

Hopefully you can begin to identify any triggers for the myotonia and get the stiffness to a more manageable level.

Jan

Type of Myotonia: Thomsen's

Country: USA