Elizabeth's new neurologist did not give up like he said. We haven't been able to get a diagnoses of MS but the lab work came back as Stiff Person Syndrome. We haven't been able to fine much on it.
This Neuro said he will not give up on the MS but right now he wants to treat the Stiff Person Syndrome.
The Neuro said that most neuro's don't even know about this syndrome, it is very rare. He also said that rare sometimes means we don't test for it and would rather diagnose you with something like emotional problems. When he can't find the easy way he starts with the "rare" and then if nothing shows up he will treat with an open mind the emotional part. He said of course you are going to be depressed and upset look what you have to put up with.
Good morning or afternoon or evening depends on where you are.
Hey there, this may sound weird, but in our classes at college, I love to look up all the strange and far-out disease, and I remember running across this one. Frankly, if I were you i'd MAKE SURE this is the correct diagnosis before accepting this neuro's word for it. The tests use to diagnose it are sketchy, becuase they can also diagnose diabetes, and a few other things as well, and must be very carefully interpreted by using a large panel of lab work. Also, does she startle at loud noises and does this cause her to have muscle contractions?
Check out this link I found, it is VERY descriptive, the best one I could find so far, if I find any other's I'll post them for you too. Let me know what you think, ok?
Hi Bob, I am sorry that Elizabeth was dx'd with this. There is a wonderful website, National Organization of Rare Diseases (NORD) that has a lot of info about rare diseases. I got the information below from About (dot) com. I will see if I can get into the database at NORD and get some more info for you.
Stiff person syndrome (also called Moersch-Woltmann syndrome) is a nervous system disorder in which muscle stiffness comes and goes. Research suggests that stiff person syndrome is also an autoimmune disorder, and people with the syndrome often have autoimmune disorders such as type 1 diabetes or thyroiditis.
Stiff person syndrome affects both males and females and may begin at any age, although diagnosis during childhood is rare. It is not known exactly how many people suffer from it.
Symptoms of stiff person syndrome may include:
Muscle stiffness in the trunk and limbs that comes and goes--this causes back stiffness or pain, an exaggerated upright posture, and stiff-legged walk
Severe muscle spasms in the arms and legs when the person is startled, touched, upset, or anxious
Curved lower back (lordosis) and deformed joints in the body, over time
Falling during sudden muscle spasms (may cause additional related problems)
The symptoms suggest the diagnosis. However, because it is a rare disorder, it may be misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, or a psychological disorder.
The diagnosis can sometimes be confirmed by the presence of anti-GAD antibodies, or other types of antibodies, when the syndrome is associated with certain cancers. However, 35 percent of patients with stiff person syndrome have no antibodies and no associated cancers.
Other tests may be done, such as hemoglobin A1C to check for diabetes or thyroid-stimulating hormone (TSH) to check for thyroiditis. Muscle testing (electromyography or EMG) may also be performed.
Although there is no cure for stiff person syndrome, there are treatments available. Drugs such as azathioprine (Azasan), diazepam (Valium), gabapentin (Neurontin), tiagabine (Gabitril), or baclofen (Lioresal) may be used. Symptoms in those with associated cancers can improve after the tumor is removed and steroid treatment is given. Plasma exchange (plasmapheresis) helps reduce symptoms in some individuals, but this treatment is typically reserved for those with life-threatening respiratory decline. For others, intravenous immunoglobulin (IVIg) is helpful. Physical therapy may help relieve symptoms related to prolonged muscle tension, but it may also trigger muscle spasms. Corticosteroids may help as well, though they must be carefully given to those with diabetes.
"NINDS Stiff Person Syndrome Information Page." Disorders. 14 Feb 2007. National Institute of Neurological Disorders and Stroke. 11 Jul 2007 .
Rodgers-Neame, Nancy. "Stiff Person Syndrome." eMedicine. 20 Mar 2006. WebMD. 11 Jul 2007 .
I hope this helps some and when I get that info I will send it to your inbox. Again I am so sorry..... Tell her we are thinking of her.
Here is an excerpt from another website.... check this out, perhaps this will also shed some light....
according to the Atlas of Genetics and Cytogenetics in Oncology and Haematology
DIAGNOSIS of GAD-antibody associated stiff-person syndrome is made according to the following criteria:
Prodrome of stiffness and rigidity in axial muscles
Progression to include stiffness of limbs, making walking difficult
Increased lumbar lordosis
Presence of superimposed painful spasm, often precipitated by external stimuli (auditory stimulation like hand clapping)
Normal sensation, no paresis
An EMG finding of continuous motor unit activity (CMUA) at rest
Response to benzodiazepines including clinical response and reduction on CMUA
High levels of GAD antibodies
Other features: Less frequently, stiff-person syndrome is associated with antibodies to the 128 kDa synaptic protein amphiphysin. It is then a paraneoplastic condition, most often occurring with breast cancer. The pathogenic role of the antibodies directed against the 128 kDa synaptic protein amphiphysin has been shown by transmission of disease symptoms by passive transfer to rats. One case of stiff-person syndrome associated with antibodies to the synaptic protein gephyrin has been described.
Also, you can check out a personal story of someone who has Stiff Person Syndrome at this link, perhaps it will give you more insight as well.
I hope that a little bit of this was maybe helpful. I just don't want to see anyone misdiagnosed, as this looks kinda scary to me. I mean, if this is what it really is this will take some accepting.... but if it's not, the muscle problems can be a sign of MS as listed in that top article in my first post.
Let me know if my gibberish was helpful, I didn't sleep enough last night. :)
((hugs)) For both you and Elizabeth
Thanks for the info. Much needed.
First of all Elizabeth was diagnosed with type 1 diabetes when she was 20 years old and now she is on the sunny side of 50. She has had a complete run of blood test again. Nothing shows up except that big word for stiff person.
Yes her legs start to have spasms with loud music, even lights flashing can set it off (no more watching TV in the dark) and when she is under stress. Her right leg is very stiff and her back has gone from arched to leaning over straight do to the extreme pain. I can't even touch her skin without setting her off. She has tried many medications to relieve the spasms and pain. She can't take valium, neurotine, gabitril, depakote, Beclofin, mythel predisone. Monday we spent the night in the ER she gave into the pain, she started yelling in her sleep, the pain was that bad. She was given anti inflammatory injection(Nonsteriodal) at first. We all thought it was kidney stones we were wrong. So the doc ordered moraphen needless to say after 1cc was given she cried out it was causing her heart to hurt. Her blood pressure went up to 144/99 with a pulse of 125. Normally it is 90/50 to 115/74 with a pulse of 50 to 88. After the heart issue ended she said go ahead with the rest. They gave her 4cc and she was ready to take on the world with pain but able to speak. She didn't sleep for 2 days. And if it could happen it did. Right there in the hospital she started to complain it was very hot. The nurse looked at her and she was turning red and sweating. Her sugar dropped to 54, she took off her insulin pump before she went into the hospital one hour before so that would not happen go figure.
One thing good she won't give up watching the grand kids. Thank God! I feel that is the only thing that has kept her going.
Now for the demylanting that's going on the doctor said he feels it is MS. He will do another MRI in January. He wanted to start her on meds for that but with her reaction to so many medications he said NO.
Bob and Elizabeth,
Hang in there, I'm praying for you.... and keep us posted. We are here for you to lean on.
This all sounds terribly frightening to me. I am so thankful that she has such a wonderful person to lean on, keep strong, and find a good friend to vent to and cry with as well.
I'm sure the doctors have thought of everything but as Elizabeth already has an endocrine problem with her diabetes, has she been seen by her endocrinologist? With the rapid heart rate and the feeling of heat etc I wonder if there is something going on with the adrenal glands? I'm as unknowledgeable as the next person but it is worth asking anything in a case like this. Sometimes if someone is producing too much adrenaline/epinephrine they respond badly to tranquilizers. Just a thought....
I really hope this distressing episode is over for you both soon. Keep us informed.
I am so sorry that this is happening to you. I knew very little about Stiff Person Syndrome and have learned much more reading what these fine people found. She is clearly going through H*ll right now and I pray they can find something to help her. Paradoxical alertness is common ofter narcotics. I get it even after a low dose of Vicodin. If I go to sleep with it, then I wake up in 4 hours when it wears off.
She was clearly having a hypoglycemic episode. The increased adrenaline should have raised her blood sugar, but what happened, happened.
Sorry it's been awhile to get back to you great ones.
Elizabeth has started the Keppra besides the mood swings and sleeping alot. She is doing better with the seizure's. The pain well is here and here to stay.
Her legs are weak and her upper arms. But the other night she sat outside and helped with washing the dogs.
Elizabeth's neuro said that not to many neuros even no about this syndrome. The ER doctor did know about it. Really a good ER doc. Elizabeth felt for him when we got there, there were only 3 people waiting but in about 2 hours the place was full. The ER doc came in Elizabeth's room and apologized for not giving her more attention. He needed to sit down and just vent. This happens alot to Elizabeth when we are out strangers will come up to her and she gets and ear full. Elizabeth jokes that she has a sign on her forehead. I will listen and not judge and love you no matter what.
I have also been diagnosed with Stiff Person. My Neuro and I hit on the diagnosis the same day. I was tested for GAD and it was high. Since then I have been put on an immunosuppressant, which has helped a lot. I am so sorry Elizabeth could not take the benzodiazapenes. Those and muscle relaxants have helped me. I have stopped falling and am able to get around in large spaces with a walker.
I hope she finds lots of cheer where she can.
Bob and Elizabeth, I'm really happy that you are able to work with doctor's that care, it seems to make the world of a difference. I hope they continue to find meds that will help...
Much love and (((hugs)))
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