Myopathic EMG and Neurogenic Biopsy

[kmroch]

Hello everyone. Just joined because I have confusion over symptoms and test results.

I will try to simplify the symptoms and extensive testing that has been done.

Symptoms:
Some of the following symptoms may wax and wane a bit in intensity or weakness, but always stays consistent as far as being consistent.

Weakness, more prominent left side leg and arm, less so on right side. Some loss of range of motion both legs, cannot lift either leg to rest on knees when sitting, cannot reach toes when standing, cannot raise either leg high enough to put socks on when standing. Twitching in both arms, hands, buttocks and less so in legs. Neurologist noticed slight tounge, cheap and lower lip twitching. Extreme general fatigue almost daily. Muscle spasms in both legs, less frequently in arms and hands. Unable to walk long distance without legs feeling like giving out or spasms. Hyperreflexia in both legs. Some loss of finger dexterity in both hands. Weakness does come and go in intensity, but with exertion always worsens. Symptoms started about a year ago, but since February have been consistent.

I have had extensive testing done with my Neuromuscular Specialist and Neurological Dr.

They are puzzled just as much as I am frustrated. They ruled out MS, hereditary diseases and now maybe even any myopathic diseases. What's puzzling them is both EMG's showed a Myopathic process with Short Duration Motor Unit Potentials, low amplitude, and

2 EMG test showed decrement, Small Motor Unit Potentials and low amplitude suggestive of a Myopathic process. So they focused on testing for every Myopathic disease and everything came back normal.

Had MRI of brain, cervical spine and lower spine, all negative.

Recently they did a muscle biopsy of left Gluteus Media's muscle, my weakness clinical muscle. Those results shocked the Dr's. The results were Reinnervated Skeletal muscle. Results showed chronic Reinnervated, so far keeping up with denervation, and abnormal muscle with grouping, atrophied fibers and fibers of various sizes suggestive of chronic denervation and reinnervation.

I was told at my last appointment is all they can do now is wait 3 months to repeat the EMG to see if this evolves, that maybe the 2 previous EMG'S were to early to show MND. I was told to hang in there, but yo try to enjoy life and do things I have always wanted to do and possibly prepare for major changes in our lives. The Neurologist mentioned possible ALS for the first time as they are puzzled by mixed diagnostic results.

I'm curious if anyone has had similar test results and if this could be ALS. I have another 3 months to wait on top of 4 months of previous testing. It is mentally draining and all they can do right now is give me supportive treatment for symptoms and PT and OT to help with trying to maintain my range of motion and strength.

Any help would be great. Thank you in advance.

 

[lgelb]

A muscle bx is not diagnostic for ALS. Not sure what you mean about testing for all the myopathies -- but did anyone discuss empiric treatment for an immune-mediated myopathy?

 

[kmroch]

The biopsy was done as a final rest for any myopathic diseases, not for ALS. The biopsy showed no myopathic process, but showed chronic denervation and reinnervation, which concerned the neuromuscular specialist. They did every test they could for Myopathy, including full genetic testing. My last exam with Neuromuscular Specialist showed increased UMN symptoms as well as previous LMN symptoms. Up to the point of the biopsy they suspected a Myopathic process and never mentioned ALS to me. It was the last visit with my Neurologist is when ALS was now mentioned as a possibility as all other possibilities were ruled out. They will repeat a third EMG in 3 months to see if this evolves. First two EMG'S showed Myopathic process with uncertain Neuromuscular involvement.

 

[lgelb]

Understood, but ALS would imply acute as well as chronic denervation, that has not been demonstrated from what you have said. And there are plenty of neuromuscular conditions that are neither MNDs nor myopathies. It is not uncommon to test the hypothesis that there is an immune-mediated disorder without being certain that there is, or what it is.

 

[kmroch]

I am copying and pasting the Clinical Notes from my Neuromuscular Specialist from the last visit. I hope this clarifies some of what was done and results. Again I am now waiting on my third EMG to be done in September or sooner if my Neurologist wants it sooner based on the evolving issues. I have a Neurologist and Neuromuscular Dr. both working hard to diagnose this and they both seem to agree that this may be a neurological/MND disorder rather than a Myopathic one that the first 2 EMG'S suggested, but they both also showed inconclusive neurological possibilities.

RESULTS
The principal findings of the left gluteus muscle biopsy are of denervation and reinnervation of skeletal muscle. This was seen
with a type 1 fiber regrouping (reinnervation), and rare atrophic fibers positive for acid phosphatase and nonspecific esterase
(denervation). The muscle structure was abnormal. There was variability in muscle fiber size, which can be seen with denervation
as well as myopathy, and may account for small motor units on his EMG. Chronicity was demonstrated with a mild increase in
fibrous and fatty connective tissue. Minimal abnormalities in the group of mitochondrial activity stains did not implicate a
diagnosis of mitochondrial myopathy. There was no evidence for myopathy in the available specimen. Note was made that a re￾biopsy could be considered.
ASSESSMENT / PLAN
We had a good discussion today about these results. I indicated that the main abnormality lies with the innervation to the muscle
as opposed to a primary myopathic process. No histopathologic diagnosis of myopathy could be made in the sample we obtained
from his most affected muscle clinically

clinical presentation is evolving. There are clearly more upper motor neuron signs today than previously
documented. Neurologic examination details +3 reflexes at the right knee, +2 at the left, +1 ankles, downgoing plantars. In the
upper extremities 0/1 in the right biceps, +1 triceps, he has bilateral Hoffmann's. Negative jaw jerk. Strength examination is
unchanged over the previous assessment. He is describing stiffness in lower extremities which may indicate spasticity as opposed
to muscle stiffness. I could observe some fasciculation in his right cheek and orbicularis oris

also had some symptoms of dysphagia, in addition to his slowly progressive loss of asymmetric muscle
strength and physical endurance. Note also electrophysiologically that he had a decrement of 10.2% post exercise in the spinal
accessory muscle.
Each of these developments does raise concern of a primary neurogenic disorder, and early denervation with muscle fiber atrophy
can give small motor units. Extensive evaluation for myopathy has yet to yield a specific diagnosis.

Rather than repeating a muscle biopsy at this point, we discussed that the next best course of action would be perhaps to repeat an
EMG study looking for more diffuse neurogenic changes in 4-6 months with full assessment of each of the 4 spinal segments.

I
would be very grateful for Dr.
input again at this point, particularly and re-examining him to confirm evolution of upper
and lower motor neuron signs.

I took out out my name and other names from this report. I am kindly asking for input from members here if this could be early ALS. My Neurologist sent me this message today as well. He did mention possibilities of ALS in last visit and has somewhat avoided wanting to confirm their primary suspicions now since my biopsy came back with unexpected results.

Dear K,
Thank you for the update and for trying the pyridostigmine. It was a long shot and wish it were more helpful. I agree you should stop the pyridostigmine. I'm very open to the Rilutek idea. I recommend though that we wait for the next EMG. If the EMG Evolves to support a nerve rather than muscle explanation then it would make more sense. I know it may be hard to wait for some sort of treatment but at the same time we would still be in an early stage overall, even accounting for 2-3 months. If you feel your exam has significantly changed we can more up the follow up appt and consider EMG sooner. Does this sound OK to you? Thank you,
Dr. Y

Any help would be appreciated. I am more concerned now than in the last 5 months since this has progressed from fluctuations to progressive.

 

[Nikki J]

Your neurologist sounds very kind. Are both your doctors university level clinicians. Community doctors are fine but when you have a confusing picture you need to be with specialists at the big academic centers

 

[kmroch]

I live in Minnesota, so am fortunate to be at Mayo Clinic. Both my Neurologist, Neuromuscular Specialist, PCP, OT and PT are with Mayo and all are very helpful. What they thought was Myopathic on 2 EMG'S and clinical findings suddenly turned possible Neurogenic once the biopsy was done showing reinnervation so far keeping up with denervation. So now they seem to lean more towards a MND disease. I'm not sure if anyone else has gone through similar situations during the diagnosis process. My clinical weakness seems to stay steady on left side with possible right side lower limb involvement at a slower pace.

 

[Nikki J]

Very fortunate. I am too living near Mass General. I don’t think the person I am thinking of had a biopsy. They had genetic testing and emgs. The doctor thought they had ALS but finally it turned out to be a myopathy. I don’t know what their initial emg showed but it was the follow up emg that led to the myopathy diagnosis. I hope you don’t end up the reverse. This was at mgh. It was quite a rollercoaster for them too.

 

[kmroch]

Hoping to get some feedback on what tounge twitching looks like with ALS. My last neuro visits on May 30 with Neuromuscular Specialist did not present with noticeable tounge fasciculations, but did show right cheek fasciculations and right lower lip fasciculations. My visit with my Neurologist on June 16, just two weeks later did present with slight tounge fasciculations with right cheek fasciculations. Shortly after that visit my spouse looked at my tounge and saw wild movement towards the back that looks like a roller coaster. Also noticed lighter, what looks like twitching, in the middle and towards the front, while the back is still like a roller coaster. Does anyone know if this is consistent with ALS like tounge fasciculations? Specifically the roller coaster like movements. This is taking place while tounge is rested in mouth. We got video of it and sent to my Neurologist to get his opinion, but won't hear back until early next week. I just wanted to see if this is typical and maybe what my Neurologist saw on the last visit.

Thank you in advance

 

[kmroch]

I hear a lot about failure for ALS. My question is do they consider failure of a muscle as cannot move it any longer or is it clinical weakness that progresses to total loss. I do have clinical weakness in multiple muscles do to denervation and subsequent reinnervation. My weakest muscle is the gluteus medius which was last at 3/5. This was the muscle biopsies looking for a Myopathic disorder, but turned out to be chronic reinnervation with abnormal muscle grouping. My next EMG is Sept 5 in all 4 segments looking for signs of MND or Myopathic disorders. First two EMG's showed Myopathic short duration motor unit potentials and decrement on Repetitive Nerve Stimulation, which the suspect now correlates with the denervation/reinnervation process. My Neurologist and Neuromuscular Dr. Say now say that I have possible ALS, if so very early stage and that the next EMG should hopefully have more yield for a diagnosis. The weakness does se to fluctuate some depending on what I'm doing, but they day it's still progressing. So could someone please explain what 'failure' would typically mean for the muscles. I'm also looking for what a Split Hand would look like before I bring this up to my Neurologist. My left hand, which also has clinical weakness of 4/5 on last exam, seems to have the index finger splitting further apart from my middle finger when holding the hand up. When I use my strength to hold the fingers closer the index finder starts to tremor and wants to spread out again. Just curious if that Split Hand or just something else.

Thank you everyone for reading this and giving me your insight into my questions.

 

[Nikki J]

Failure. Generally there is complete failure of one or more muscle to start so there will be something you just can’t do but that may be small or specific. My first failure involved my ankle I could not step sideways without falling over. Usually there is this type of thing but when other muscles work with the affected one other things may be more difficult and you will show clinical weakness. Overtime as more muscles fail you see the complete paralysis

Split hand needs to be determined by your neurologist. Whatever the issue is if it is new describe that and let them decide what it is

I understand waiting is difficult. Unfortunately there isn’t a way to rush things if your neurologist has decided you need a certain interval between emgs. Please try to enjoy this next month

 

[kmroch]

Nikki J thank you for the information. I guess it would be hard to say if there is any failure in the left Gluteus Medius seeing that muscle works with other muscles. Definitely makes walking harder especially longer distances or stairs. Clinical weakness was documented with reinnervation, but that's all I know so far. Same as Clinical weakness in 11 other muscles all on left side and none on right. No failure as far as I can tell, at least not that I can easily recognize.

 

[kmroch]

Next EMG is coming up just next week. Sept 5. Been a long almost 6 months since last EMG. My Neurologist ordered it to be completed by a specialist so nothing is missed in this mystery of different test results. Previous Myopathic EMG results with decrement of 10.2% on Repetitive Nerve Stimulation on my Trapezoid muscle. And then the results of chronic denervation/reinnervation with abnormal muscle structure on my muscle biopsy of my clinically weakest muscle, left Gluteus medius. So just been waiting since May for another EMG to see if this has evolved as Neurologist and my Neuromuscular Dr had now considered a possible ALS diagnosis rather than a Myopathic disorder.

So recently I have been getting regular cramps on tight inner thigh after my right leg has been experiencing more weakness, spasms and twitching. My left leg was the original weakest at the start. Also just very recently my right middle finger seems to have experienced slight locking. I had trouble raising it from a curled position to full straightening for a while one morning. Seems to be better, but still not normal. My fingers all tend to want to stay slightly curved. I can straighten them all on both hands with more effort, but they then tend to want to go back into a curl position very quickly. Can this happen with ALS or is it not typical? I'm nervous, yet wanting to get the next EMG over in hopes of getting some final answers after having this for a year now.

Thank you everyone and I really appreciated this forum and all the good information.

 

[kmroch]

Had my 4th EMG yesterday, about 6 months from last one. Examiner essentially tested left side leg and arm again in same muscles as last EMG. I questioned my Neurologist on this as the Neuromuscular Dr wanted a more comprehensive EMG of all 4 spinal segments to look for Diffuse Neurogenic changes. My question is does anyone know what is all tested in a 4 spinal segment EMG? I was under the impression he wanted every limb and bulbar tested, but not sure if that's what he meant by a 4 Spinal segments test is. I messaged my Neuromuscular Dr and am waiting for a reply. My regular Neurologist said he will order another EMG after our visit next week. I was upset with the short EMG yesterday that only involved repeat RNS on spinal accessory nerve and needle EMG and the same 8 left muscles as last time. It didn't seem like a comprehensive 4 spinal segment test. Just wondering if anyone knows what a 4 spinal segment EMG involves.

 

[lgelb]

The four spinal segments are cervical, thoracic, lumbar, and sacral. Each of these links to different nerves in different parts of your body, that control different muscles. I don't really hear that nomenclature used in terms of an EMG usually, but suppose it would signify testing nerves and muscles that are controlled by each of those four segments.

I can understand the value of redoing the same muscles as last time in terms of checking to see if there are changes.