Hi Jessica,
I recently had DNA testing to confirm what I had always thought to be MC, however, it was in fact PMC. I live a normal life and most people would not know I had a muscle problem. I've had two pregnancies, neither of which were considered high risk from MC. However, when I was pregnant with both of my kids, I noticed my symptoms dramatically worse. Everything I did was in slow motion. I would have problems walking stairs, especially as I gained more weight in the end. I also noticed that trying to do things suddenly was impossible. I could not react as I did before pregnancy. During my second pregnancy, my 18m old was not listening and decided to run from me. He took off thru the grass towards the street. I immediately yelled at him to stop, knowing I couldn't get him fast enough. He paused, and then took off across the street. I tried to react and chase him, but couldn't. I tensed up, fell, tried to get up and go get him, fell again, and then managed to get to him. Luckily everything was fine with both the baby and him. But I felt like the worst mom ever! I couldn't protect my son when needed the most. So basically, from my experience, lots of stiffness, cramping, more tired, and slow reactions. Good luck with the pregnancy!
Jennifer

Type of Myotonia: Paramyotonia Congenita

Country: USA

Congrats Jessica...What an exciting time!

I also have MC and was a bit nervous about my pregnancy. My son is now 3 years old and doing well ,but I did have a VERY difficult pregnancy. I was immediately considered "high risk," but I honestly think it was because the OBGYN was not extremely familiar with MC. I had a scheduled C-section b/c I didn't think that I would be able to have naturally. My biggest piece of advice...try to keep the weight gain in a normal range. I gained almost 80 lbs. (30 lbs. of water, which I lost within 2 weeks after delivery), but the extra weight gain made it difficult for me to physically move. Although I had a rough 9 months, I would totally do it all over again...My little man is so worth it!

Type of Myotonia: Thompsen's

Country: USA

One more thing I forgot to mention... During my pregnancy, my symptoms did become worse. I moved much slower, etc. etc. But, the strangest thing... From the time my son was born until he was about 2 years old, the effects of my MC were lessened, almost non-existent. It was like my internal temp. went up and, I never felt cold..even in the winter. I am sure there is some type of medical explanation for this, but I like to think that it was God's way of allowing me to physically take care of my child.

Type of Myotonia: Thompsen's

Country: USA

I was also put in the high-risk category for my first 2 children. I think they do that because MC is not familiar to them. I had to go to the neurologist and he recommended me to have c-section. So now I have 3 children all by c-section.

Type of Myotonia: Thomsens

Country: US

Mindy,

Sometimes I think we're making progress educating doctors about MC, but then I read comments like yours and feel like we've only just begun!

There is no reason why someone with MC should have a C-section based on the condition. In fact the potential necessity for general anesthesia would immediately put you in the high risk category. Many women start out with a planned Cesarean using an epidural, but if it leaves patches where the anesthesia is not working, the doctor will immediately order inhalation anesthesia and often paralyzing agents, and that's where we get into trouble.

Like I said in an earlier post, I think most doctors do a search on the terms childbirth and myotonia and a bunch of results pop up about myotonic muscular dystrophy (which does have different considerations for labor and delivery because smooth muscles are involved).

Sorry you and so many others have had C-sections unnecessarily, although there's still the chance one might be done for other reasons. I've got to convince some OBs to write a paper about it!

Jan

Type of Myotonia: Thomsen's

Country: USA

I think it was partly my fault for not being educated enough on the disease. I found out that I had MC at an early age and I just dealt with it. I rarely went to the doctor and I hated talking about it with anyone. The only people I ever told were my coaches because I wanted them to be aware so they wouldn't think I was lazy. When I became pregnant is when I became more interested in the disease because I was afraid for my babies. When they told me I was going to need to have a c-section I researched all over and could not find out if anyone had a normal birth so I just accepted it. I wish I would have found this web site. The thing that scared me the most was right before I went to the back to have my surgery I told the Anesthesiologist and he got the book out and had to look it up right in front of me! So I have been a little frustrated that docotors don't ever know anything about it and you would think my ob would have at least mentioned it to my anesthesiologist. Well I have 3 healthy babies and so far no signs of MC. I have not had them tested yet. Should I? I figured I would see the same symptoms that I have. They are 7, 5, and 2 and symptom free so far.

Type of Myotonia: Thomsens

Country: US

Mindy,

If you have Thomsen's confirmed by DNA testing and not just an EMG you can get your children tested for the same mutation very easily. It is important to know because anyone with a mutation needs to wear medic alert jewelry at all times whether they have symptoms or not. My mother had no symptoms at all but had cardiac arrest from high potassium levels that developed under anesthesia.

Years ago any time an EMG showed positive the doctors tended to just diagnose it as Thomsen's. Now we know that there are two types plus several other myotonic disorders so it is good to get a definitive diagnosis with DNA testing. No one in my family has had symptoms until they were at least 7 or 8 years old. Do you have relatives with MC?

EMGs are so painful and often terrifying to children that I recommend that the affected parent have the DNA testing done first, then have the children checked for the exact mutation which is much cheaper and faster.

The two testing labs in the US are Athena Diagnostics and Fullerton Genetics.

I loved your basketball story! That was one of my favorite sports, too.

Jan

Type of Myotonia: Thomsen's

Country: USA

Jan,
I think they diagnosed me by doing an EMG I don't know for sure if they did a DNA test. I asked my mom and she couldn't even remember. I have had 3 knee surgeries and have not had any signs of anesthesia problems. My second son has already had 2 surgeries at the age of 5. He was born with a heart diffect and he also had no trouble with the anesthesia. So I guess we haven't worried about the MC in our kids because we have been preoccupied with other things. All the doctors know that I have MC and they usually say that I need to go to the Muscular Dystrophy hospital in Dallas TX to get everyone checked out. So if my kids don't have it can they still carry the gene and pass it on later? And I can't find anyone in my family that has it which doesn't make since because thomsens has to be passed down by someone.

Mindy

Type of Myotonia: Thomsens

Country: US

Mindy,

DNA testing has only been widely available for a little over 10 years, so you probably didn't have it done. Since there is no one else in your family with symptoms, you most likely have the recessive form (Becker's). Each of your parents would have contributed a recessive gene, so your children may have inherited one copy ,but that is not enough with the recessive mutations to cause symptoms. (There are a few exceptions where a single recessive mutation seems to be able to cause some myotonia and may show up on an EMG.)

The anesthesia issue is very unpredictable. You may have several surgeries with no problems, then suddenly develop a life-threatening reaction during another surgery. That's what happened with my mom and many others I've heard from. Several factors are involved and I suspect the tendency increases with age. It can also be affected by certain environmental factors like pesticides. No anesthesiologist would give you triggering agents if they knew about the MC, even if you haven't reacted in the past. I would really advise you to get medic alert jewelry of some sort.

Your local doctor can order the DNA testing or refer you to a geneticist. There's probably no need to go to the MDA clinic in Dallas since you've already had an EMG and are doing fine. Some of the MDA clinics will pay for testing (they cover whatever your insurance doesn't) and others have had to cut funding. You would have to call the patient coordinator to know for sure. If you do turn out to have a dominant mutation (Thomsen's) then it would be important to have your children tested as well since they have a 50% chance of inheriting it.

Jan

Type of Myotonia: Thomsen's

Country: USA

Thanks for the info! So what is the difference in beckers and thomsens? I know one is more dominant than the other but are the symptoms different?

Type of Myotonia: Thomsens

Country: US

Symptoms vary so much from person to person, but in general based on feedback over the years people with Becker's tend to have more pain and cramping and probably more transient weakness. They also experience more total-body stiffness from being startled and fall over without being able to break their fall ("timber" effect).

With Thomsen's we seem to have much more trouble with the muscles in our face, jaw, eyes, tongue and throat with frequent choking.

Contrary to what the medical literature usually says, it appears that people with Becker's usually have hypertrophied muscles even as toddlers and may have difficulty with stairs and walking from a very young age. It's not uncommon for someone with Thomsen's to have very little symptoms until puberty.

I think the degree of severity is often determined by other co-existing conditions that may not even be severe enough to be diagnosed. My sister and I have the same mutation, but she has very little stiffness and my mother had none at all. But I have a condition that decreases the available phosphates for muscle fuel and I experience severe myotonia if I don't keep my phosphorus intake up.

Jan

Type of Myotonia: Thomsen's

Country: USA

All of this is very interesting since I thought I've had thomsens all these years. My symptoms started when I started to walk at 9 months old. My parents said I would sit and play for along time in one spot. When I did get up they told me I walked like Frankenstein for a few seconds and then started to walk normal. It wasn't until kindergarten when my p.e. teacher thought there was something really wrong going on. I have muscle stiffness all over and my calves have been big my whole life. My face is not usually affected. I've never had problems with choking. I do notice my tongue bothering me sometimes but not as bad as my legs, arms, and hands. I also have experienced the timber thing a few times. It usually happens when something startles me or when I trip unexpectedly. Well I am going to my ob on Thurday and I am going to see about getting a DNA test so I can find out what mutation I have for.

Thanks for the info
Mindy

Type of Myotonia: Thomsens

Country: US

Hello All-
I am a midwife in Ontario Canada. A women has contacted me and she is interested in having a natural birth and has Thomsen's Myotonia Congenita. There is very little information on MC and pregnancy, so I found this forum and have found your postings very insightful. I was hoping you all would be willing to share more information about your pregnancies and particularily your labours and vaginal births.
I am aware of the anesthesia complication of malignant hyperthermia and have also read that symptoms can be more severe in pregnancy, but I am concerned about labour contractions. When the uterus starts to contract, is there a possibility that the uterus may spasm or be hypertonic? Is that the rationale why so many have been recommended to have a c-section and avoid labour for fear of comprimising the blood flow to baby? Or as labour progresses does your body boecome "warmed-up" and therefore the myotonia resolves?
Please share your birth stories, it can help promote more natural and normal births!
Thank you

Type of Myotonia: Midwife for a client with Thomsen

Country: Canada

Heidi,

Thank you for taking the time to research the information for your client. I worked as a midwife assistant and doula for many years so this is an area of great interest to me.

I have Thomsen's and had a home bith with my last daughter, and when she grew up she chose to have two home births (no complications), probably because of how positive my experience was with her birth. I didn't know if your client would be delivering at home or in the hospital...I'll try to give you some recommendations for both.

Myotonia Congenita affects skeletal muscle. Smooth muscle is not involved, so the uterus does not become hypertonic any more frequently than it would for a "nomal" mother. That is not true in Myotonic Muscular Dystrophy...in that condition there are often precipitous labors and the mothers would be considered high risk since the baby is often born hypotonic. Many doctors get the two conditions confused.

It is important for the mother to keep her blood sugar normal during the labor. Fasting will make myotonia worse and so will glucose infusions if they are given too quickly. If you can keep protein intake up as well as phosphates it will help a great deal. Clear chicken broth (natural, without additives like potassium chloride or MSG) is a great way to help with this. If juice is given it would be helpful to salt it if the mom can tolerate the taste.

Epidurals are completely safe, and so are spinals which would be my choice for a C-section. Local anesthetics can exacerbate myotonia if they have epinephrine added. So Xylocaine/Lidocaine are not the best choices. Marcaine and Carbocaine would be preferable.

Since cold makes myotonia worse and heat makes it better, it's best to avoid cold packs for pain relief. I always heated rice packs in the microwave and placed them either on the mothers' low back or lower abdominal area. That would be a good choice for someone with myotonia.

The muscles that are going to be affected most during labor are abdominals and thighs/calves. Because of this squatting can be difficult, and pushing can be quite painful if the abs start cramping. My daughter and I both used bean bag chairs with a high back for support and to keep from having to stress our legs.

Anxiety and fear can also worsen myotonia because adrenalin affects the function of the chloride channel, so it's important for the mom to be well trained in relaxation techniques using deep breathing and completely emptying lungs as slowly as possible to avoid acidosis. Since the diaphragm is also very much affected it can cause a sensation of not being able to breathe (intercostal muscles can also get very tight). That in turn causes panic and the cycle continues. A warm towel or hot packs around the ribs can help.

The warm-up phenomenon is temporary...in other words if the mom was pushing hard with her abs, during the resting time between contractions the myotonia could worsen (it only takes minutes), so it will be like starting all over again. Other parts of the body you may see affected are eyes, jaw, and hands. If the mom squeezes someone's hand during a contraction she will have a tough time letting go when it's over! If she's squeezing her eyes shut to deal with pain, she may feels like her eyes and eyelids are locked when she tries to open them again. Again, these are just temporary, but with the intensity of labor they may feel much more magnified than usual and cause anxiety. Just reassure her it is all normal.

Sodium channel blockers like anesthetics relieve myotonia (the most commonly prescribed medication, Mexitil, is actually an oral form of lidocaine). A good natural chloride channel stimulant is capsaicin. In my family we often chew on a few red pepper flakes to get relief from severe myotonia. Very warm water is also quite relaxing if you have a tub available. Be sure to keep the temperature about 90 degrees to avoid aggravating myotonia. When I did home biths I would often put towels in a dryer to heat them and drape over the mom. Hospitals often have warmers that can be used, or I sometimes put a heating pad between a couple of towels to warm them.

When the muscles are overcontracting, sometimes touch can make it worse. A firm pressure may be preferable to stroking or massaging. Many of us have a very painful response to massage. It's so individual that it's best just to let the mom call the shots, but be sure to warn husband/partner/friends so they don't feel rejected if she tells them to stop touching her.

Hope this is helpful...your client is welcome to email me any time if she has questions.

Jan

Type of Myotonia: Thomsen's

Country: USA

Thank you
Jan, your posting was very helpful.
I will pass on your offer to my client.

Type of Myotonia: Midwife

Country: Canada