Stiff man syndrome? Diagnosis help needed!

[ailindria]

For years I have suffered from debilitating, and painful cramps, not merely in my calves but in my thighs, trunk both back and sides, and also arms (I have a high threshold to pain and when I get these they truly take the one to 10 pain scale right up to 20.) The ones in my arms and hands can be seen most easily as my thumb contracts into a position I can't even duplicate without one of these cramps occuring.  These cramps can last up to 30 minutes when they hit.  I have had my blood drawn once when these things occur and all my electrolytes are normal.  I used to be a power walker, now I can barely walk the length of a half a football field without being in terrible pain and having my back start spasming my gait is unsteady, stiff, and I loose my balance and fall frequently.  The symptoms are worse when I am out in public and away from the quietude of my home, although I still get cramps at home and worse ones when I am driving I actually had to pull off the road once because the cramping was involving almost my entire body, I felt like I was going to die and a bypasser called an ambulance because they thought I looked acutely ill. Of course once I got to the hospital the cramps had resolved so they told me I had a bladder infection and sent me home (like my grandmother I always have rbc's in my urine, and usually a few wbc's too).  I have for years experienced periods of random muscle twitching which always worried me as I used to have grand mal and focal motor siezures when I was young.  I used to be able to lift 200 pund patients with ease now I can barely lift my cat, a whole 10 lbs and I often have to wait for my husband to open a simple ziplock baggie for me.  I suffer from chronic insomnia due to pain, I am exhauseted after even small amounts of physical activity.  I have hunched shoulders which my physical medicine doctor is always after me about (I have a history of a broken neck in 2 places at C4 and a partially herniated disc between C5 and C6, also I fell 2 years ago and broke and dislocated my left shoulder and tore the rotator cuff) she says my poor posture is causing a lot of my pain yet trying to straighten my shoulders is painful and pretty much impossible I thought it might be because I had mild scoleosis before but when I found out about stiff man syndrome it seemed the cause may be a different one. I have difficulty at times swallowing as I get sever throat and upper chest spasms and pain if I eat too fast, or if I become upset while I am eating. The other day I had a strange episode I felt almost a poplike sensation in my head became very dizzy and then my heart began palpatating and shot up to a rate over 200  and stayed there for almost 40 min with accompanying diaphoresis, and upper chest discomfort.  At the time I was walking not running, or exercising. I took an aspirin and went into the nearest clinic my heart rate was 211, and my bp was 112/83 as soon as she put me on the gurney with my body in trendelenberg my heart rate dropped to 102.  The following EKG was normal.  I have had anxiety attacks before and this did not feel like an anxiety attack, although the Dr who saw me kept insisting it was. I have asked my Dr, and other Doctors at the HMO I go to to order the test for the GAD antibodies, but time and again no one seems willing to order it.  Can someone tell me how I can get this test done, if I have the antibodies in my blood at least I will have an answer to what is wrong with me.  I realize it won't cure the illness but at least I won't be made to feel like "The fat, crazy lady" which is causing me to be more depressed than you can imagine.  Can someone please refer me to someone who can help me get this test done I live in the San Diego area.  Thank you so much for your time and patience in reading this.

[ailindria]

Thank you both so much for your responses!  Just having people respond who have similar situations is really helpful, because believe me it is frustrating and depressing (and trust me the limitations I know live with are already depressing enough) when no one believes you, or takes you seriously. Your answers, advice, and moral support means more than you can imagine to me.  Thank you both again for taking the time to read and respond to this!  

[joemeyerson]

I have SPS, and your symptoms closely match the progressive manner of the disease. Quick check #1: if you are place on a moderate amount of prednisone and valium (GABA producer) do your symptoms decrease or cease? If so, you should be given a GABA test. If you have read up on-line, there are two other autoimmune substances which may indicate SPS, and there are some who have no immune indications, but show up positive on EMG (electrified needles test your muscle fiber signals - no fun!) Some positive advise: Ask your doctor if they have ever SEEN a case of SPS (1 in 1,000,000 incidence). If not, demand you be referred to a Neurologist or Endocrinologist for test. If refused, write your doctor and tell them they are not competent to recognize, diagnose or treat SPS; and that they may be committing malpractice by refusing you either the GAD or EMG tests.  cc: to HMO, demanding a review of your denial. All HMOs have appeal procedures and should provide you with a correct professional referral. If that fails, go to your state govt. agency that regulates you HMO. At some point, it will be cheaper for them to give you the GAD65 test than to fight you.
GAD65 test is fairly cheap (GAD65 attacks pancreatic beta cells that regulate insulin) Quick lesson: SPS'ers usually have GAD65ab epitope (Plain GAD65 might be arranged 1,2,3,4,5,6,7; GAD65ab parts might be 1,2,4,5,6,7,3... GAD65ab specifically GABA producing neurons. Normal GAD65 in people is 0>1.5; diabetics are about 5; SPS'ers go higher, sometimes much higher. (I am 23 to 27 when tested). Some SPS'ers go into the 1,000 levels. I had both my GAD65 and GAD65ab tested by my Nuero, but even the plain GAD65 scores without diabetes (oh yeah; we have a 50% chance of also getting diabetes; 20% thyroid, 50% breast, etc.) have a 99%+ rate of confirming SPS.
I would also suggest you check out the FB SPS 'Groups' and 'Causes' sites; there are 4-5 with a few hundred members. Also google 'John Hopkins SPS' 'Yale SPS' and 'eMedicine SPS' (substitute 'Stiff Person Syndrome' for SPS.

[redkim]

Oh, I would never assume it to be normal.  First there could be something you have they didn't tell you about or they could have missed something.  This is so common.  I have a pineal cyst in my brain I was never told about for four years.  When the doctor told me about it he said it would kill me and would need to be monitored.  This was when I saw him for a consult for a brain malformation I have that I had surgery for, which when I was told about it they said it was nothing to worry about, again for years prior to my follow up.

i don't want to scare you it could be nothing, butyou should get your report and films.  I hope you're having a pain free day.

[ailindria]

Thank you for your empathy in this Redkim, I can certainly empathize with your symptoms as well, and thank you for reading this.  I have had an MRI done last June, and the MD I had to beg to do it never bothered to contact me with the results, so I am assuming it was normal. Hugs to you though and hang in there!

[redkim]

YOu should have an MRI.  Maybe check for MS or some other nuerological condition...I too get really bad cramps.  My arm hurts, for 8 years.  My thighs and calfs cramp up, all right side.  I feel for you!

[ailindria]

sorry I meant to say reverse trendelenberg not trendelenberg position