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vantec

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I saw my Neurologist on Thursday, and I had NVC and EMG tests, the last time he did those tests was 4 months ago. They came out normal (which really surprised me), but my blood work came back with a high reading of GAD-56 AutoAntibody. The normal range is 0.0-1.5 U/mL, but mine was 10.3U/mL. The doctor said I had Moersch Woltmann Syndrome or Stiff Person Syndrome. Has anyone ever heard or know anything about it? I checked the Internet, and there is a lot of conflicting information. It doesn't sound any better than ALS. The longest anyone has ever lived with this disease after being diagnosed is 17 years. There is no cure, and the treatment is with very high doses of Valium (up to 1000mg a day!), long-term intrathecal baclofen therapy, and intravenous immunoglobulin in the hospital for up to 5 days. Only 1 in 1 million people have Stiff Person Syndrome, which means that there are only about 300 people in the US with it. How could I be so lucky?

The doctor wanted me to go right to the hospital, but I told him I wanted the test done again. The reason I asked him to do the test again was because I don't have the symptoms that Stiff Person Syndrome should have. My first symptoms started June of 2006, so I would be in the early stages of the disease, but I has some of the symptoms of the late stage of the disease. There should be an abnormal EMG, but mine was normal. I don't have an exaggerated upright posture, nor do I have severe spasms, or any kind of spasms. The spasms can be so strong that a person can break their bones. I can tell you that is not going to happen to me, because I am getting less mobile, weaker, and again, I don't have spasms. I have muscle twitching, but that is not a symptom of Stiff person syndrome. I have muscle wasting, but I don't see that being a symptom. My legs are very weak and stiff, but sleep is supposed to give relief, but it never does. My voice is very nasal now, and I sometimes choke while I am eating, and drinking water, but from what I read, that might happen near the end of your life. I've read some stories by people that have Stiff person syndrome, and they are nothing like what I am going through.

Anyway, I should get the second blood tests next week, and then they are going to want me to stay at the hospital for a week. I don't know if my insurance is going to cover all these expensive treatments. I'm wondering if I should get a second opinion?

Conrad
 

John1

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Conrad,

I would certainly visit an ALS clinic or neurologist for a second opinion. You don't say what province you are in (or country) but I would check out your regional ALS experts. It seems unlikely given the number of people with stiff person syndrome that your doctor has ever seen anyone with it either. Another negative EMG is good news though.
 

ltr

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Hi Conrad,

I'm really sorry that you have been given a lousy diagnosed. I have also come across stiff person syndrome in my research and have read different scenario's. Is it possible that that blood test could point to other diagnoses as well? Or maybe the syndrome comes in different forms? Because of the classes I am enrolled in, research is something I do everyday, so I will be glad to see what I can find if you would like. Let's think positive and hope for the best. Leslie
 

patricia1

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I would go for a second and third opinion People make mistakes and your neuro may be one of them I had 4 diagnosed before ALS So go i dont know where you live bur there are get neuros in pHilly and Baltimore Maryland If you need names I would surely give them to you Pat
 

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Hi Conrad - I think you should trust your instincts. You know your body better than anyone. And you have the time to research where a busy doctor with many patients may not. As for the insurance- if they won't pay for the tests then I'd appeal. Persistence is the name of the game, it seems! Good luck! Cindy
 

vantec

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I really think I should get another opinion, like you all suggested. For a doctor to make a major diagnosed of such a rare disease from just one blood test, seems to me like he hasn't tested me enough. The funny thing about getting a normal EMG, is that with Stiff Person Syndrome, the EMG should not be normal, it should show continuous muscle firing, and mine did not show that.

Leslie, you make a good point about it could be something else. There is a correlation with higher than normal GAD-56 AutoAntibody's in people with Type I diabetes, but not the high reading that I have. If you could do some research on Moersch Woltmann Syndrome, I would really appreciate it. If you could find out what the average GAD-56 AutoAntibody serum levels are with people that have Moersch Woltmann, that would be great. I'm trying to think positive, but I know my body, and I don't have the symptoms I should have. All my symptoms match up with ALS (I'm not sure which is better, ALS, or Moersch Woltmann).

Maybe someone can answer this. Why is it that it takes sometimes 4 or 5 EMGs before they can diagnosed a person with ALS? If your muscles are so weak, there is atrophy, and twitching, why are there so many clean EMGs, and finally on the 4th or 5th one, it shows that you have ALS? A lot of people get a diagnosed, and they can still drive a car, walk, even exercise. I can just barely walk now, and driving a car is out of the question.

Conrad
 

CBowman

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Conrad,

Did they ever mention to you the possiblity of having MMN (multifocal motor neuropathy). This is also treated with IVIG.

I have weakness in my legs so much so now that I am in a wheelchair. They thought I had MMN or ALS. I am going to Mayo in two weeks to see what they have to say, but I think it will be ALS. They tried 3 rounds of IVIG and the first two showed some improvement and the last one did not. My nero doctor told me on 2/15/07 he thinks its ALS and I should go to Mayo to be sure. If you look up MMN it has a lot of your symptoms and a lot of symptoms of ALS.

By the way, the IVIG can be administered from a home infusion company inlieu of going to a hospital to have it done (thats what I did). Each session of the IVIG takes 3-5 hours based on your body weight and yes it is very expensive. Hope this helps.


Chad
 

Jamiet

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Conrad,

My EMG showed the classic signs of something called Isaac's Syndrome, which is also "stiff persons syndrome'.

It's since been ruled out, but are your muscle twitches like "worms" under the skin, or pops.

Make a real tight fist, then try to open your hand quickly, can you open it quickly.

You need to have a special potassium test.

Most Stiff persons syndrome is not life threatning?

And you need to get to an ALS clinic.


Good luck.

Rgds,

Jamie
 

ltr

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Hi Conrad

I researched for you and found that the abnormal finding of GAD autoantibody is used in conjunction with the symptoms of Moersch Woltmann Syndrome (Stiff Person Syndrome). The patient presentations I read had much, much higher levels than 10.3. The sites with good info. are these. In this first one the patient's GAD was 66.2 along with all the symptoms -

http://atlasgeneticsoncology.org/Kprones/StiffpersonID10103.html

In this reading, scroll down some for better info.
http://www.bcm.edu/neurol/challeng/pat40/summary.html

From what I found, GAD is a marker for a lot of neurological disorders which I would make me more concerned that there is something neurological that they should be checking. You know it's not Stiff Persons. With this positive test maybe you can check out some other autoimmune neurological disorders to focus on curing you. Hope this helps. I really think that you can get better Conrad and I am praying for you. Leslie
 

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Great research, Leslie! That's what I like about this forum. Everybody is so helpful and we tend to look out for each other. Hope your day is going well, Cindy
 

ltr

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Thanks Cindy. By the way, I found the research I told you I would find for you that concerns the cranial muscles. I don't want to use Conrad's space, so I will send you a private message! Leslie
 

vantec

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ltr said:
Hi Conrad

I researched for you and found that the abnormal finding of GAD autoantibody is used in conjunction with the symptoms of Moersch Woltmann Syndrome (Stiff Person Syndrome). The patient presentations I read had much, much higher levels than 10.3. The sites with good info. are these. In this first one the patient's GAD was 66.2 along with all the symptoms -

http://atlasgeneticsoncology.org/Kprones/StiffpersonID10103.html

In this reading, scroll down some for better info.
http://www.bcm.edu/neurol/challeng/pat40/summary.html

From what I found, GAD is a marker for a lot of neurological disorders which I would make me more concerned that there is something neurological that they should be checking. You know it's not Stiff Persons. With this positive test maybe you can check out some other autoimmune neurological disorders to focus on curing you. Hope this helps. I really think that you can get better Conrad and I am praying for you. Leslie
Leslie,

Thanks so much for doing the research, and finding the web sites that have information on the levels of GAD autoantibody's. This is getting so confusing to me, because I can't match my symptoms with any of the autoimmune disorders. I was hoping the neurologist would call me today, with the retest of my blood levels, to see if there was an error in the first test. Even so, I still am going to an ALS clinic (there is one in my area) for a second opinion.

And Jamie, when I am at rest, I can feel my muscle twitch, and at night, I have felt like there were worms under the skin, and a feeling of like popcorn pooping, under my skin. What does that mean?

If I make a tight fist my hand doesn't open as quickly as it use to, and gets real stiff when all my fingers are stretched out. I think Stiff persons syndrome is life threatening, but I can't seem to find out much about that on the Internet.

Conrad
 

CindyM

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Conrad-you're describing the symptoms that a lot of us share. I'm rooting for anything other than ALS. We can form our own support group for whatever the new disease turns out to be! :-D Cindy
 

ltr

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Conrad,

It doesn't seem out of the question that you could have an autoimmune reaction. You know that your symptoms can mean so many things! Jamie mentioned Isaac's syndrome which sounds like a possibility. I have been researching Isaac's syndrome for awhile and am anxious to talk to my neuro about it. It does not have anything to do with Stiff Person's Syndrome, other than the continuous muscle activity and the fact that your EMG's were normal doesn't fit, but you know from so many others that they can change. EMG's for this disorder read continuous muscle activity, even in sleep (something I definitely have). Here is a good link on Isaac's and there are a lot of others on the web. From what I read about Stiff Person's (and I read a lot!), the prognosis is unknown, but quality of life is very poor due to the severe muscle spasms with patient's secluding themselves so as not to trigger the spasms. Remember, GAD can mean a lot of things, according to reports on the internet.
Let us know how your new test goes! Leslie

http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm
 

beckycooper31

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I have just been diagnosed with ALS in Dec 2006. The battery of tests have been normal except for the usual upper motor neuron involvment. My EMG is still normal however I am having atrophy of both lower legs and intirinsic muscles of hand. Talking is a problem if I am fatigued. I had been progressing rapidly with inability to walk without forearm crutches. I began to take Lyrica for leg pain and Rilotek. I am doing so much better. Is this usual or could I have been misdiagnosed and getting better. By the way I do believe in Miracles and prayer as well as meds. I have had 3 opinions. This is my first attempt at the forem. I hope I am doing it correctly.
 
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