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View Full Version : Anyone with myotonia congenita?


 

 

 
tata33
04-02-2008, 02:27 PM
My dad and my grandpa both had it and I was told that I have it. I would have problems when I was in high school and I would be racing in track and fall flat on my face cause my legs wouldn't go anywhere. My grandpa was almost having to go through exploratory surgery till a dr. finally said that is what his problem was and he even had problems with his stomach and all. I have been having stomach problems also and just wondering if it could be from this MC. The MD dr. that I saw wanted to put me on a med that is for seizures but it made me really tired to where I wanted to sleep all day and I have kids so I can't so I only took it like 2 days and I only took half of one and I was still tired. He also told me that MC couldn't cause stomach problems but I was like if my grandpa had them with it then why can't it,,,I don't know. I wondered if maybe I needed to see someone else. I have knots in the stomach area and in the chest area that I think are due to a muscle thing....but not sure on that I just know the knots hurt and sometimes i can go a couple of months and they don't hurt and then they flare back up and I think alot of it is due to the weather. Please help if any one has any ideas.

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RavensGirl
05-09-2008, 09:51 PM
:)Hi! I am so glad to have found you! I also have myatonia congenita and so does my dad.
I also experience the falling and muscle weakness. My dad has had several episodes of periodic paralysis. We both have stomach problems ao that may be related to the condition.
I have knots in my neck that cause migraine-like headaches and they flare up when there is a weather change. Cool fact: I used to live just across the border from you in north Texas and, if you pay close attention to your body's signals, they will tell you when bad weather and storms are moving in!
It is very hard to find doctors who know a lot about the condition because there are not a whole lot of us that have it. I have'nt had much luck myself.
One thing you might want to do is have your kids tested because it is genetic. It is very fortunate to know your grandpa has it because my dad and I did not know our biological relatives or our family history and it took twice as long to find out what was wrong with us!

tata33
06-10-2008, 11:43 AM
sorry ravensgirl I haven't been on here in awhile I forgot where I had posted stuff at. Well I might get into a doctor in a few weeks that might know more. I talked to my mom about this problem the other day cause I have been going through some of this for almost 3 years now. And my grandpa was going to have exploratory surgery at the OU science center in Oklahoma City, OK and then a doctor told him what he had and did fine after the meds. I went to one MDA doctor but he told me it was not the MC that was causing stomach problems so needless to say I haven't been back to him. Cause why would they tell my grandpa that his was that and tell me no. I think it is some doctors now a days. And a doctor told me this once here recently and how true it is. The newer doctors like to go by the book but no one patient wrote that book. So therefore you go by the patient to learn new things.

tata33
08-16-2008, 12:39 AM
I went to another doctor last month that deals with this and the only med for it is for seizures and I can't take it cause I tried one pill and could have slept for 24 hours or longer. So still checking into to it he said most people just live with it and don't take the meds. So if you find out anything let me know.

tirressa
09-26-2008, 12:41 PM
I have adult onset myotonic dystrophy . It was confirmed by a genetic test. The best doctors to see are at MDA clinics. Myotonic dystrophy is a fairly new discovery so most general doctors are unaware of it. Neurosurgeons cover it briefly in school. The neurosurgeon I saw used a EMG test to find it. He said he had never treated it. He sent me to the neurology/muscular disorders at UT Southwestern clinic. She had me do a sleep study (sleep apnea is common), wear a halter monitor (problems with the smooth muscles that send signals to the heart), have a echocardium (not a ekg because this can give false readings), and have my eyes checked for cataracts. I had already had cataracts when I was 40 years old. I do have sleep apnea but do not snore.

There is a group at Rochester Hospital in Rrochester, NY that studies myotonic dystrophy. You may be able to be part of some of the studies and comfirm whether or not you have myotonic dystrophy. Hope this helps.

Spring65
11-05-2008, 06:34 PM
I have adult onset myotonic dystrophy . It was confirmed by a genetic test. The best doctors to see are at MDA clinics. Myotonic dystrophy is a fairly new discovery so most general doctors are unaware of it. Neurosurgeons cover it briefly in school. The neurosurgeon I saw used a EMG test to find it. He said he had never treated it. He sent me to the neurology/muscular disorders at UT Southwestern clinic. She had me do a sleep study (sleep apnea is common), wear a halter monitor (problems with the smooth muscles that send signals to the heart), have a echocardium (not a ekg because this can give false readings), and have my eyes checked for cataracts. I had already had cataracts when I was 40 years old. I do have sleep apnea but do not snore.

There is a group at Rochester Hospital in Rrochester, NY that studies myotonic dystrophy. You may be able to be part of some of the studies and comfirm whether or not you have myotonic dystrophy. Hope this helps.
Thanks for the information. I am 43, have a 4 year old and deal with Myatonia issues every day. I too had my cataracts removed at 40. I have leg/foot muscle issues and stumble quite a bit. I have not heard about the sleep apnea issues - thanks for the heads up. I have been having stomach issues. At first, I thought it was food poisoning but now wonder if it is related to myatonia. Will check out Rochester even though I live on the west coast....

shawnmariehardy
12-18-2008, 02:34 AM
I'm glad I found this page. I'm a 47-year-old single mom/artist, who has been dealing with some major problems that span as far back as the late 1980's. The symptoms have progressed rapidly over the last few months, but I am convinced that stress plays a large part in that.

I only recently realized that I suffer from myotonia, which on its own isn't that bad. But I have also been dealing with weakened muscles (face, eyes, hands, neck, shoulders, chest, abdomen, legs, & feet = did I leave anything out?). The most disturbing thing now is that the weakness in my chest makes it hard to breathe sometimes and I have good days and bad ones - today's a good one. If I'm up for a long time the weakness is much worse. If I sleep a good long time then I usually have a good day.

The myotonia is present in my hands at all times, except its not as bad when I first wake up in the morning for some reason (or so it seems). It is also in my toes and also in my jaw and neck, but just slightly. The worst of all is when I get cold and start to shiver, the chest muscles freeze up and I can't breathe. This also happens if I am really uptight or anxious. I also feel it in my abdomen - so maybe it also affects my diaphragm.

Along with the myotonia, I get fasiculations, which I have had since 1998, when I was diagnosed with "benign fasiculation syndrome". It started the year my daughter was born - about three months after her birth. I have recently started getting 'charlie horses' when I contract certain muscles.

I have serious weakness - can no longer get up from a sitting position without pulling myself up, can't lift heavy things easily, can't grasp onto things. If I try to lift anything heavy at chest level it feels like I have a brick in my chest. My facial and eye muscles are weak and they droop badly when I first wake up. By the end of the day my eyes look like they are half shut. If I tip to the side (I'm a little tea pot) my face follows gravity and falls toward the floor into a grotesque, mask-like appearance. Nice. My face has obvious signs of muscle degeneration. I can do this trick with my eyes where I blink them several times to warm up the muscles, then I stop and you can watch the eyelids contract all by themselves. One of my eyes slams shut. I can usually get some chuckles from that one, but its also very disturbing. I can also do a couple funny tricks with my hands. First of all, there is no muscle control left in the muscle where the thumb meets the hand. I can bend my thumb all over the place like a Gumby toy. Secondly, I rest my arm, palm down with fingers together, on a flat surface and then with my arm in place, I raise my hand up (keeping that arm firmly planted) trying to keep my fingers straight so they'll point upward toward the ceiling. Only I can't do it. As I raise my hand the fingers take on a mind of their own and curl into a claw-like pose. Again, no muscle control. I sure hope that this is evidence enough that I am suffering when I have my disability hearing in January. I can no longer work but I'm trying to hang on to a job working about 16 hours a week. But I have to call in sick a lot and I'm probably going to get fired if I keep it up. It's so frustrating. I don't know how I am going to survive.

I have dealt with digestive problems for years and have been diagnosed with GERD and the muscle at the top of the throat that propels food down doesn't work well anymore. I get heartburn even on my Protonix, and I have a chronically hoarse voice from the muscle thing. I have recently started throwing up for no reason, but it doesn't happen all the time. Sometimes food just doesn't settle with me and it feels like its not digesting. Then up it comes.

I am very affected by extreme heat and any kind of cold. I suffer from Raynaud's syndrome and my muscles get very stiff in the cold. I feel like I'm going to throw up when I go out into extreme heat for any length of time.

I have electrical issues with my heart and for the first time in Oct. 2007 I fainted. This is called syncope (pronounced sink-o-pee). They said it was due to my heart, but I think its due to Myotonic Dystrophy. My PCP agrees and I'm awaiting a trip to the neurologist (at an MD clinic in Portland OR). I found out that my mother has myotonia in one hand, so whatever it is, it's hereditary so I want the genetic testing done. I don't even care what it costs. I'll find the money to pay for it.

My biggest worry, as I've said before, is the breathing. I also have a lot of heart disturbances that have sent me to the ER over the years. I went to the ER with breathing difficulties and they sent me home telling me my lungs were fine. yes, they were fine, but my muscles weren't. I didn't realize then what I know now. I always have this heaviness in my chest and in my legs. I have pain most of the time. I have sleep apnea so I wake up gasping for air sometimes, which nearly sends me into an anxiety attack because I wasn't breathing. I have taught myself how to curb the anxiety attacks and I'm very good at it now, so I rarely have a full-fledged attack anymore (hooray!). Something else of interest - when I went into a pool for the first time in a few years I could not immerse my body in the water without being unable to breathe. I attribute this to one of two things - or maybe both. My first theory is that the water is cold and it makes my abdominal and chest muscles contract. Or, the muscles are so weak that they can't withstand the water pressure. I'm thinking the second one is right because I have that sensation in the bath too, so I only take showers now. But honestly, it's made me have somewhat of a fear of water.

Anyway, I thought I would share this with those of you who have similar problems. You can definitely have stomach problems with this - I have 'em and have for years.

As I take my history and start putting the pieces of the puzzle together I now realize that I wasn't crazy. There was an answer. It isn't official, but my PCP gave me a note saying I can't work anymore and that I am being worked up to find out the cause of my neuromuscular disease. There aren't that many that involve myotonia, and this was an adult-onset thing. That doesn't leave much to choose from. Except for not being diagnosed with cataracts (but I need to be tested for them because I have double vision and a haze over one eye_ I present with almost every single symptom of Myotonic Muscular Dystrophy.

:dizzy:

CBerumen
12-24-2008, 06:08 PM
I have suffered with moderate to severe myotonic symptoms for my entire life but was only diagnosed last week. It was something I was ashamed of and kept hidden from everyone, including my family. Until recently I thought I was alone... a freak. Now that I am growing to understand my condition I am feeling far less shameful and more empowered.

Does anyone else experience muscle pain as well as tension? I have talked to everyone on both sides of my family and no one has or remembers anyone who had MC. Does anyone else lack a family link? Also does anyone know of support groups, studies or experts in the SF Bay Area?

shawnmariehardy
12-26-2008, 04:53 AM
I have suffered with moderate to severe myotonic symptoms for my entire life but was only diagnosed last week. It was something I was ashamed of and kept hidden from everyone, including my family. Until recently I thought I was alone... a freak. Now that I am growing to understand my condition I am feeling far less shameful and more empowered.

Does anyone else experience muscle pain as well as tension? I have talked to everyone on both sides of my family and no one has or remembers anyone who had MC. Does anyone else lack a family link? Also does anyone know of support groups, studies or experts in the SF Bay Area?

Yes, I have suffered with muscle pain and tension and just passed it off as stress. But over the past couple of years, the pain has gotten worse. Sleeping can sometimes be a real chore because I have so much pain. I also get muscles spasms and fasiculations and sometimes they're painful.

After talking to my mother she showed me that she also has the signs of myotonia, but only in one hand. I have an aunt that has had a lot of health troubles with muscles and such, and had very bad hammer toes that needed surgical correction. I remember her getting teased a lot because she was always very awkward - clumsy. I even remember someone in the family saying she was "lazy." I don't have contact with this aunt but plan to try and find out her history. Nobody else in my family has a dystrophy, or myotonia. But I'm sure its from my mom's side.

I am glad you don't feel like a freak. I don't. In some ways I feel special - only because I believe everything happens for a reason and this is the challenge I am meant to deal with. Mine has not been 100% diagnosed - except for the fact that I do have myotonia. But with the facial drooping, atrophy in the face, weakness in several other muscles, fatigue, etc. whatever it is, it's degenerative.

As far as a specialist in the bay area. The only thing I can help you with there is a good therapist to talk to. I know a great one in SF who I used to see. Peter Straus. As far as support, contact the local MD clinic - they may be able to hook you up.

klattsoe
12-29-2008, 11:11 PM
now which drug are you taking/?
i think they give you muscle relaxant
some drug dantrolene

klattsoe
12-29-2008, 11:16 PM
now which drug are you taking/?
i think they give you muscle relaxant
some drug dantrolene
now have you been taking this drug mexiletine pheynetoin acetazolimide

shawnmariehardy
12-30-2008, 03:10 AM
now which drug are you taking/?
i think they give you muscle relaxant
some drug dantrolene
now have you been taking this drug mexiletine pheynetoin acetazolimide

No drugs - I'm trying exercise, diet, positive thinking first. Drugs kill your liver and many drugs make my myotonia worse.

aces
01-08-2009, 11:34 AM
Recently diagnosed with Thomsens Myotonia Congenita.
I too have terrible muscle pain.
Do any of you have gastrointestinal problems like constipation, abdominal pain?
I assume most were diagnosed via DNA testing?

thx.

aces

CBerumen
01-09-2009, 01:35 PM
now which drug are you taking/?
i think they give you muscle relaxant
some drug dantrolene

I have been taking Acetazolamide with great affect!

shawnmariehardy
01-09-2009, 03:49 PM
Recently diagnosed with Thomsens Myotonia Congenita.
I too have terrible muscle pain.
Do any of you have gastrointestinal problems like constipation, abdominal pain?
I assume most were diagnosed via DNA testing?

thx.

aces

Yes, I have had trouble with gastro stuff from top to bottom. Have had several endoscopies and colonoscopies and CT scans and swallow studies - I have GERD (chronic reflux with errosion) and the muscle at the top of the throat is weakened; there are times when food won't digest and I vomit; I had my gall bladder removed; I have had several bouts of pancreatitis; I have been diagnosed with IBS; I have had one bout of volvulus which was corrected with a barrium enema; I had my appendix out; I have chronic constipation; I have bouts of diarrhea; I have had polyps removed from my colon about 4 times in the last 8 years. I've had unexplained bouts of gastroenteritis as well. Fun fun fun!

I have been diagnosed with muscle testing so far - myotonia is pretty specific. And because I have the telltale signs of the dystrophy part (ptosis, atrophy, muscle weakness, and a slew of other unexplained symptoms for years), it is evident that it is not just the benign form of myotoina. Myotonia sent me to the ER yesterday. It is affecting my diaphragm and surrounding muscles, making it feel like I'm wearing a tight girdle. This makes breathing uncomfortable.

I have an appt. pending with the MD clinic at OHSU in Portland, OR for the genetic testing.

aces
01-10-2009, 05:33 PM
From your symptoms sounds like you should be posting in a Myotonic Muscular Dystrophy forum.
Im looking for others with DNA confrimed Myotonia Congenita

aces





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