Hi Jan, I am really scared now, you see, in 2005 febuarey I saw my g.p and I had the elevated cpk levels but had to wait 3 whole months before I saw 2 doctors who thought I would have had the weakness muslce disease like beckers dystrophy but neither new what I had and so in june had the emg and the doctor I saw said he had seen only 1 case in his time as a doctor about 30 years cause he was quite old and he said it was thomsens, but after reading on the internet I just assumed that it was Beckers which doesnt run in familys but it does seem to cause stiffer muscles and a bit of weakness that thomsens people dont have, I did have blood sent to germany and I see a neurologist and he said to me he doesnt know what it is I see 2 one doesnt really deal with this muscle problem and tells me I know more than him and the other one told me it is deffo myotonia congenita, I know I have had it all my life cause I remember P.E and they sit you down and 1 by one you run from sitting so I couldnt get my muscles ready and climbing stairs cause stiff muscles aswell if I close my eyes tight I get bout 8 secs before they open again properley, I never had the gagging symptom and even though it is bad to live with I thought myself so lucky when that doctor said it was myotonia congenita as for the whole 4 months I panicked thinking I was going to be in a wheel chair when I was 30, my mum did go for a test thought which showed her as a carrier but my dad didnt go for the test and doctors upset my mum by saying did you sleep with your cousin as a insentive for me having this disease which upset me aswell as you can imagine, plz reply asap if any of what I said sounds more like Myotonia Congenita, I have called to have my 1 year appointment with my neurologist forward but they said I had to go to my G.p so I did that about 5 days ago

Type of Myotonia: dont no

Country: britain

Martone,

If your mother tested positive on the EMG, then you probably don't have myotonic muscular dystrophy. If the mother is the one with the mutation it is usually obvious from birth in the child, although the symptoms may get better for a while until around puberty. But it's still worth getting the testing to know for sure.

Usually myotonia doesn't show up on the EMG for a carrier for the recessive form of MC (Becker's). It is possible that you have paramyotonia congenita which seems to be more correlated with weakness, or you may have Thomsen's. My mother was positive for Thomsen's but never had a single symptom her whole life. Many people never experience choking or difficulty swallowing and I have definitely had weakness as well as stiffness, mainly when I was still eating a lot of sugar. CPK levels can be extremely elevated in any myotonic disorder because it's measuring muscle damage.

Hopefully if you sent a blood sample to Dr. Lehmann-Horn's lab in Germany you'll have an answer before too long. If you want to read about paramyotonia congenita there are two websites that cover it, HKPP.org and PeriodicParalysis.org. I'll paste in the FAQ from HKPP.org about paramyotonia. With PMC you actually get worse as you exercise but it can be hard to tell the two apart. How long ago was your sample sent to Germany? It can take a year or even longer to get results if it was sent through a research study.

Hopefully some of the UK members will jump in and let us know where they got their DNA testing.

Jan
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Paramyotonia Congenita FAQ

Last updated Saturday, June 25th, 2011


What is Paramyotonia Congenita?

Paramyotonia congenita (PMC) is a muscle disorder which causes muscle stiffness (myotonia) that appears during exercise and becomes much more severe upon exposure to cold. The myotonia which occurs during attacks of PMC may be so severe that the patient cannot inhale and exhale properly, and movement becomes difficult. The medical term myotonia means that the muscle fibers are slow to relax after contraction.

Myotonia can make it difficult for the patient to let go of objects which have been picked up (like a pen or drinking glass). The muscles may feel tight or stiff. One patients describes feeling like he is wearing a very tight wet suit during attacks. For some patients myotonia is painless, for others it is painful. Myotonic patients may look like athletes but their “well-developed” muscles are often quite weak.

Some patients have PMC alone, while others have PMC and Hyperkalemic periodic paralysis. HyperKPP and PMC are caused by a mutation in a sodium channel on the same gene and are considered to be different forms of the same disorder.

The difference between PMC and HyperKPP are:

1) PMC patients are usually extremely sensitive to cold exposure.

2) PMC patients develop muscle stiffness as they exercise, not during rest after exercise. This is called 'paradoxical' myotonia - which is where Paramyotonia gets its name.

3) PMC episodes tend to last longer than HyperKPP episodes - days rather than hours. In some PMC patients long-term episodes (weeks to months) of significant weakness can be triggered by unusual exertion. Such patients must be extremely careful to avoid muscular fatigue.

PMC can be associated with either hypokalemia or hyperkalemia, but it appears more commonly in association with hyperkalemia. There is a form of PMC in which episodes are triggered by a fall in potassium. Patients with HyperKPP may have this form of PMC, and thus may be sensitive to the movement of serum potassium in either direction.

What causes Paramyotonia Congenita?

PMC is caused by an abnormality in the sodium channel of the muscle membrane. This flaw makes the person with PMC extremely sensitive to cold, to the exchange of sodium and potassium ions which occurs during exercise and to shifts in potassium levels that wouldn't bother the average person. The person with PMC may get muscle stiffness and weakness with even slight changes in potassium level, or in response to cold or exercise.

How did I get it?

In a majority of cases PMC is inherited, but in some cases it just happens, like any other birth defect, for reasons which are unclear. It usually, but not always, accompanies HyperKPP.

Will I pass this on to my children?

There is a 50% chance that a child of an affected person will inherit the gene mutation, but the degree to which a child is affected may vary from one child to the next. One child may be mildly affected, the next seriously affected and the next unaffected. Even identical twins may be affected to different degrees. A child with PMC is often affected from an early age, often during the first year of life.

What triggers attacks of PMC?

The hyperkalemic forms may be triggered by potassium-rich food. Cantalopes, apricots, dried figs, kiwi fruit, peaches, raisins, banana and prunes are all high in potassium as are orange and pineapple juices and apricot and peach nectars. High potassium vegetables include; Artichoke, lentils and beans, parsnips, potato, pumpkin, spinach, broccoli, brussels sprouts, cauliflower, tomato juice/puree and V-8 juice. Most nuts are high in potassium as is peanut butter. Chocolate is also high in potassium.

Other triggers for PMC episodes include activity or exercise. Vigorous exercise may provoke weakness which lasts for months. Getting chilled will make most PMC patients weak. Weather changes trigger episodes in some patients. There is more than one type of PMC. In some types patients must avoid potassium and in some forms they require potassium.

What tests are used to diagnose PMC?

The myotonia may be found during electromyographic (EMG) examination. During this test fine needles are inserted into the muscle and the muscle’s electrical signals are recorded. The muscle is chilled for this test, as chilling brings on the myotonia. Evidence of myotonia supports the diagnosis of PMC. At times diagnosis is not as easily accomplished, and further testing is necessary. There is more information about diagnosis in other articles on this website. See The Exercise EMG.

Where do I go for the best treatment?

The best place for treatment is almost always the patient's own family physician, if that physician is willing to read about the condition and learn how to manage it. Every patient responds a bit differently to treatment and the members of our group who are, on the whole, the most satisfied with their care are those who are cared for by the person who cares for their overall health. It’s very important to take responsibility for one’s own health. Once a diagnosis is reached the patient must assume the day-to-day work of managing the condition.

Who is doing research on PMC?

There are a number of research teams working on the PPs. Research is concentrating on the genetics and mechanics of the channelopathies, rather than on therapy and management. There's been nothing new in the way of therapy for many years, although we have learned how to apply therapies much more effectively, and we've made great strides in management.

Can I have genetic test for PMC?

Genetic testing is available, but it is not yet reliable enough to diagnose all cases of PMC. While a genetic test may be able to say you have PMC, if the results of the test is negative that does NOT mean you do not have the disorder, as researchers know there are a number of variants which they have yet to be able to identify.

What medications are prescribed for PMC?

Treatments for PMC must be individualized depending on symptoms. Patients must learn to 'read' their symptoms and take the appropriate management steps to lower or raise potassium levels as needed. PMC probably presents the biggest management challenge of all of the periodic paralyses and requires both flexibility and a team approach between patient and physician.

The medications prescribed depend on the type of PMC the patient has, and if the patient has another type of periodic paralysis as well as PMC. The carbonic anhydrase inhibitor 'Diamox' (acetazolomide) is often prescribed for the other periodic paralyses, but may make a PMC patient's symptoms worse. Diuretics which reduce the level of potassium in the blood are often used in PMC, especially when it is accompanied by HyperKPP. These are drugs like the thiazides (Hydrodiuril, hydrochlorothiazide) or furosemide (Lasix). Florinef is used occasionally when the patient needs to retain sodium and fluid as well as excrete potassium. Low doses of Mexiletine (Mexitil) and Paxil (paroxetine) are used to help reduce myotonia. Potassium supplementation often is helpful in cases of PMC, even when patients take diuretics to help them excrete potassium.

Will I be able to lead a normal life?

Most people with PMC lead reasonably normal lives, though they must be cautious not to get chilled or overextend themselves physically. Many cases are mild, and even in those with frequent symptoms can be helped with medication and attention to diet and lifestyle. There is no cure, but most patients manage to lead well-rounded and fulfilling lives. There is no denying that PMC does require adaptations to many patients’ lives, but by itself it does not cause permanent muscle damage.

Will I end up in a wheelchair?

This is a hard question to answer. If activities like climbing stairs and walking long distances become very fatiguing it may be wise to use a chair to conserve physical strength and avoid falls. Any number of our older members use a wheelchair outside the home, but are mobile and on their feet inside the house. Very few rely on a wheelchair full time unless their condition is complicated by other problems.

Will my life be cut short?

There is no evidence that PMC is life-threatening.

Type of Myotonia: Thomsen's

Country: USA

My blood was sent to germany in 2007, but I took the doctors word that it was myotonia congenita, what do the germany place look for in the blood? I never went back for the results or anything I just thought I would have it done because my mum and dad wanted to know what type it was, would they be able to diagnose myotonia congenita with the blood? Also what has been getting worse is the stiffness not the weakness like it can take a min before I can walk when I get up sometimes I fall down

Type of Myotonia: dont no

Country: britain

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

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

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

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

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

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

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