Myopathic EMG and Neurogenic Biopsy

[KimT]

Mayo in Jax tested the same muscles each time until I was diagnosed. Johns Hopkins tested fewer muscles than Mayo because I was already diagnosed.

 

[kmroch]

KimT. Thank you for that info. Dod your EMG keep coming back normal or very little changes each time? My results were tye same as last time showing decrement on RNS and short duration motor units in upper left limb. Will see neurologist next week and he will order another EMG based on the exam where he thinks it's best to test further. It's a wild roller coaster with EMG showing Myopathy, but muscle biopsy showing reinnervation.

 

[KimT]

Never. My EMG had both active and chronic changes from the very first one. What took Mayo so long was that I was strong, even in the muscles tested. I had some clinical issues, in the beginning, but strength wasn't one of them. Actually, I did notice weakness but I was extremely strong for a woman. My EMG was classic ALS from the very beginning. That was the reason they did so many other tests and had me return every three months. I never had an EMG that was anywhere near normal and it just kept getting worse as time went on.

 

[kmroch]

Saw my Neurologist yesterday. What a roller coaster. My last EMG done last week showed no changes from prior EMG done in March. Only difference was that it showed some fasciculation that was not seen before. Otherwise it's continuing to show short duration motor potential in various muscles and decrement on RNS test. So conclusion again was no definite evidence of Myopathy or ALS. Neurologist told me they tested for every Myopathy and Neuromuscular disorder there is and still nothing definite.

My exam showed increase in hypereflexia with ankle clonus and an increase in spasticity in both legs with increased muscle tone. So they now think I may have a Central Nervous System disorder over a Peripheral disorder. They decided to now shift all testing to look for Central Nervous system disorders. They initially ruled out MS because of clean brain and spine MRI. But they now say everything is back on the table. As of now he says ALS is low, MS is low but there are two very rate disorders that they highly suspect. MSA is one and Stiif Person Syndrome is the other.

Neurologist said my limbs are becoming very rigid and am losing a good amount of range of motion in legs. Other symptoms are loss of coordination, loss of balance, wide stiff gait, syncope, fasciculations, muscle spasms and cramping and weakness that fluctuates in intensity. It's just been a roller coaster and Neurologist keeps apologizing for not being able to diagnose this debilitating condition.

So for now a new series of testing starts next week for conditions affecting the Central Nervous System. Because of the increasing spasticity and rigid muscles with increasing hypereflexia in every limb he strongly suggest it's Stiff Person syndrome, which is very rare about 1 in a million according to Dr.

 

[Nikki J]

Best of luck to you! Did they order the antibody test for sps? Are they willing to try treatments for it or not yet?

 

[kmroch]

So far they ordered the SPS and many other blood test for autoimmune disorders of the CNS that were not previous done. To start the next workup I will have a Spinal tap and thermoregulatory sweat test. He mentioned getting other subspecialty departments involved depending on these test results. He did do a video of my walking, standing from sitting and my inability to raise both legs to knees to show to colleagues. SPS is on the radar, but so is MSA and going back to maybe MS or low on differentials is ALS. He said that my clinical symptoms and past test results can really point to any of them depending on how everything evolves. So far there is just no clear signs for any one disorder, but they now suspect it's a CNS issue possibly with Autonomic and Peripheral involvement. I'm at Mayo Clinic in Rochester where SPS is studied extensively so they should be able to rule that in or out soon I hope.