I’ve been undiagnosed for almost 3 years.. EMG and notes… Seeking advice or suggestions?

[La11]

Hi, I am still not diagnosed (past thread here) and they are leaning towards MMN some of the recent notes from neuro are below and I attached my EMG, I have no bulbar symptoms so far, I am hesitant to even write here, considering this may not be ALS, but I’m right in the middle of this.. and it’s been very hard for me to say the least, I’m sure many of you can relate and I’m so sorry to share my worries with all of you, …if you are willing to send any information or thoughts, that will be helpful for me.

We did get the blood result back, and I do not have the antibodies for G1, which from what I understand is related to MMN .. I was hoping for positive on this GM1 antibody.. at least it would point us more towards MMN Is what I ve read.. but doctors explained it still doesn’t mean that I have ALS, but it doesn’t mean that I don’t.

They want to start these ivig treatments either way is what I gathered from my last visit and I will see them again in a few weeks.. I’m trying to figure out if I should wait and see if any more symptoms occur or try the treatments next.. the worst of my symptoms are fatigue and wrist drop on my right hand… I can still jog a mile and do push-ups every morning.. for this I am so grateful… UCSF has been wonderful, but part of me wants a break from doctors. This has been going on for three years for me. Thanks for listening and many blessings to all of you..


This is long and I apologize in advance… Of course, just trying to explain my situation, which is pretty complicated .. EMG and other notes attached not sure exactly what they mean, of course just listening to the doctors at this point..

Updated dr notes…current:

first noticed weakness in her left hand approximately three years ago, around three months after receiving the Johnson & Johnson COVID-19 vaccine in April 2021. She described an initial tremor and a sensation of weakness while performing tasks such as washing dishes. She also noticed what she perceived as swelling in her hand, but was unsure if this was due to actual swelling or atrophy of surrounding tissues. The weakness was initially mild and she attributed it to potential overuse from her work as a massage therapist, or possibly a side effect of the vaccine.

Over time, she noticed atrophy in the thenar eminence of her left hand, which she first observed in October of the same year. The weakness and atrophy remained relatively stable, and she did not experience any new symptoms for about a year. However, in December 2022, she noticed that two of her fingers on her right hand had become "stuck" and she was unable to make a peace sign. By March 2023, she began to experience weakness in her right wrist, which she noticed when lifting a full gallon of water.

In April 2024, she noticed that her right thumb and pinky finger had also become involved, with weakness and limited mobility. She reported that her symptoms have been stable since then, with no new symptoms reported. She also mentioned intermittent episodes of muscle spasms and twitching, particularly at night, which she has experienced throughout her life.

The patient has a history of a car accident in 2015, which resulted in a herniated disc and chronic back and leg pain. She also reported a history of muscle spasms, particularly following the accident. She has been seen by multiple healthcare providers, including neurologists and orthopedic specialists, and has undergone extensive testing, including EMGs and MRIs.

The patient does not report any changes in her speech or swallowing, nor any bowel or bladder issues. She has not been hospitalized in the past year for any reason. She does not have a personal history of neurological disorders or movement disorders.

The patient does not currently take any medications, but she does use nutritional yeast, which is fortified with vitamin B. She has been using this product for about 10 years. She also occasionally uses over-the-counter pain relievers for unrelated joint pain.

The patient's family history is notable for a great-great-grandfather who was believed to have Kennedy's disease, a type of motor neuron disease. However, the patient has been tested for this condition and the results were negative.

The patient continues to work and maintains an active lifestyle, including regular exercise and swimming. She has also been using a brace and performing exercises to help manage her hand weakness.

Review of Systems:
Constitutional: (+) fatigue Musculoskeletal: (+) hand weakness, arm weakness, leg weakness, back pain, leg pain Skin: (+) rash Neurological: (+) tremor, numbness in hand, numbness in feet Psychiatric: (+) anxiety

 

[La11]

Sorry.. I meant to add this more specifically to the last post… This is different information. They’ve done a lot of testing.

MORE RESULTS/NOTES EMG:

Purpose: Asked to perform an EMG study for this 48 yo woman with a cervical cord syrinx, a 2.5 year history of left thenar atrophy, and a 1.5 year history of right wrist and finger extension weakness. Her neurologic examination reveals atrophy of the left thenar eminence, weakness of the right finger extensors, wrist extensors, APB, and FDI muscles), and weakness of the left APB muscle. There are no abnormal sensory findings or reflexes in the arms. A recent neurologic exam in clinic revealed right triceps power is 5 and right FE power is 3; right APB is 4 and right finger flexors is 5, right IO is 4 and right FCU is 5. Reflexes: Finger flexors 0 on the left and 1 on the right. Biceps and triceps reflexes are 2 bilaterally. Tone in the arms is normal. Tongue bulk and power is normal bilaterally. Cervical spine MRI from 5/24/23 reveals neural foramina that are widely patent from C4-5 though C7-T1 levels bilaterally. There is a focal cervical syrinx at C6. She reports a prior severe low back pain radiating down the right posterior thigh and calf. A prior lumbar spine MRI on 4/21/15 shoed a large central L5-S1 disk herniation. Query: pre or post DRG sensory and motor impairments
Procedure: Nerve conduction studies were performed with surface electrodes. EMG studies were performed with concentric needle electrodes.
Description: These electrodiagnostic studies are abnormal for reduced left median compound motor action potentials (CMAPs). Right median and ulnar CMAPs are normal. Conduction velocities across the elbows are normal. Bilateral median, ulnar, and radial sensory nerve action potentials (SNAPs) are normal. Transcarpal studies are normal. There is no conduction block or focal conduction slowing in nerve segments that are valid to assess.
The needle EMG studies are abnormal for fibrillations, long duration motor units, and reduced recruitment of motor units in the right EDC muscle. There is reduced recruitment of motor units in the right FDI and APB muscles without associated long duration motor units or fibrillations. There are long duration motor units and reduced recruitment in the left APB muscle and mildly reduced recruitment in the left FDI muscle. Needle EMG result for proximal right arm thoracic paraspinal, and right leg muscles supplied by right L2-L5 roots and anterior horn cells are normal.
Impression: Abnormal results for the electrodiagnostic studies indicating: 1) reduced recruitment in muscles of the right hand attributable to the right median, ulnar and radial nerves, but normal needle EMG studies of proximal muscles supplied by the same nerves; 2) mildly prolonged duration motor units and reduced recruitment in the right EDC and left APB muscles; 3) denervation and chronic partial reinnervation of muscle supplied by the right S1 nerve root or anterior horn cells.
COMMENT: There are clinical and electrodiagnostic features suggestive demyelination and axonal loss in the right forearm and distal arm. Correlation of these results with MR neurography of the right arm and forearm is recommended. spine neuroimaging may be helpful. Compared to outside EMG study results from 3/1/22, the results in the right leg are not significantly changed. Compared to outside EMG study results from 5/19/23, the results in the right hand are worse for the EDC, APB,
and FDI muscles.

 

[lgelb]

Color me confused -- the EDS dx is not mentioned in the notes, nor any followup MRI since 2015??

Your extensive spinal damage and connective tissue disorder seem much more likely potential causes of your issues than either MMN or definitely more so than ALS.

I think you've returned to the wrong place, but I urge you to put your medical geneticist and neurologist together and to ask specifically about followup imaging; they may want to also consult a neurosurgeon depending on the results.

 

[La11]

Hi. Thank you for replying. To clarify my situation we have done at least three MRIs over the last few years of brain, brain and spine, we’ve already had numerous neurologist and neurosurgeons rule out any of the back and neck injuries, causing my symptoms. I’m working with UCSF neurology and they sent me to the ALS specialist, who is leaning towards MMN… but I did not test positive for antibodies or conduction block, which would lean more in that direction, I meet with them again in a few weeks. I was diagnosed with EDS back when the atrophy started in 2021. I know my posts are long, but I was mostly looking for somebody else’s opinion on the EMGs. As I understand some of the language, but not all of it and I wonder if that looks like ALS or MMN or perhaps it would look like both? Meaning maybe they look the same on EMGs?

Trust me, I am grateful they are at least leaning towards MMN, but they also explained they will keep watching me in case any other symptoms occur that would point us back towards ALS. My symptoms have come on in a strange way, meaning atrophy as the first symptom, then right hand went almost a year later and continues to get worse and weaker, although I should clarify it stabilizes for about six months and then it will get a little weaker. Fatigue has also gotten worse, and the muscle twitching comes and goes and its body wide.

It was explained to me that all of these symptoms are also typical of MMN

I have slight weakness in my right leg, and my right toe is starting to curl under this started about eight months ago and hasn’t gotten much worse, but it’s definitely noticeable

Also, I was hesitant to post here because I will learn more at my next appointment in a few weeks with the ALS specialist. They are talking about having me try the IV treatment for. MMN… If I respond to it that would rule out ALS is my understanding, but if I don’t respond to it, I’m not sure if that means I will then be back in the ALS category? Or?

Either way, I am counting my blessings and trying to stay calm and I really do appreciate anyone who takes the time to read any of this. My anxiety is definitely through the roof as this has been going on for almost 3 years. It will be three years . Still no diagnosis. We also did about five different rounds of blood tests for heavy metals limes disease, etc. etc. I have all those results if anyone thinks there’s any relevance, but most of them are showing up normal.

Many blessings to you and all who are at this site .

 

[La11]

I will also mention that I already did a lot of genetic testing at UCSF besides all of the other tests. Nothing genetic showed up in numerous genetic panels and a three hour appointment with genetic specialist. I was just hoping someone could take a look at my EMG, but I realize these are long messages, I just thought it would be worth mentioning that We already ruled out genetic situation as well. In case anyone is following this. Thank you so much and blessings to you all.

 

[lgelb]

None of us will be in a position to re-interpret your EMG, which does not support motor neuron disease but in format is not as granular as most we see. If you have anything like MND, it's certainly slow-progressing.

If MMN is confirmed, that would effectively rule out ALS, but if it's not, there is plenty of territory besides ALS and MMN when it comes to neuromuscular disease. I note that the last visit was on video, hardly the setting for that sort of differential. I presume there has been a more recent in-person visit.

Again, I would ask about repeat UE/spine imaging before considering IVIG. It doesn't make sense not to make as much diagnostic progress as possible, including following a syrinx that may have been growing in the last several years, before considering a somewhat risky treatment, especially since your functional abilities have not shown major limitations. The EMG examiner makes the same point.

Equally, I would get your medical geneticist or whoever is managing your EDS to weigh in beforehand as well, since CTDs can affect EMG results, including masking myopathy, as well as the safety/effectiveness of traditional treatments. I am surprised not to see mention of the EDS in the history notes and while MMN without conduction block is possible, its rarity coupled with the rarity of EDS suggests a significant likelihood of another scenario.

 

[La11]

Dear Igelb,

I can’t thank you enough for your words. The EDS was supposedly the most common form, hyper flexibility. I am very hyper flexible, and one point somebody thought my tendons were too loose, causing some of the issues. no one’s ever really studied my EDS so all I know is they mentioned I have the basic kind or some combination and that was one doctor about four years ago. UCSF neurology explains. They do not think this is related.. but perhaps it is.

The wrist weakness in my right arm is definitely Disabling to a point where is difficult to put my hair in a ponytail or wipe the counter down with a rag or do dishes, and a frying pan is a lot heavier than it used to be, but I can still pick it up…. I can hardly pick up a cup of coffee in a normal way anymore. I cannot type using my right fingers anymore.

My left arm is slightly weak, but still functionable and yes, I can still do sit ups and push-ups and jog mile daily.. although I do have severe fatigue, which is more noticeable now than a year ago.

I agree that looking at my spine may be another better option before starting injections. My low back is very painful and the leg weakness and toe curling under.. is possibly related to some of this or as you mentioned some kind of CTD or perhaps a combination of a few things going on.

I also have a lot of tingling in fingers, hands and feet,and now tip of tongue … this comes and goes and I’ve mentioned it numerous times to UCSF neurology team,.. they don’t seem to note this .. I know it’s not common in ALS but I’ve also read, it can happen. (?)

my muscle spasms are body wide and comes and goes… and my fingers twitch at a different level- meaning they really twitch and it’s usually when I’m trying to use my muscles... They start twitching and I can usually make it stop.

Granted, I have googled way too much for the last 3 1/2 years… which is why I’m pretty confused now and Which is why I’m grateful for your advice because there’s only a few places I am seeking advice these days.

I really don’t want to do the injections unless I have to - so at my next meeting I may see if they would please look at my spine again and perhaps my syrinx which is in my cervical vertebrae, it was very small and the UCSF neuro surgeons and Sonoma county neurosurgeon all ruled this out, but the scans were done in March 2023, that’s the last time they looked at any of my spine. I suppose there’s a chance it could be growing and that may be causing some of this.. to be clear, in 2023 it was not large enough to cause symptoms though .

I just keep staying strong and I have another video appointment coming up but as per your advice, I’m going to demand an in person visit before I do any more tests. They haven’t seen me in person since June.

I apologize Again, another long reply from me, but my case has been complicated and your words are very helpful, more than you probably know, so please know I am so grateful for your reply and I don’t expect anyone else to say much more here but your advice has really helped me See things different and I will be asking for different test before I commit to any IVIG treatment… that makes the most sense to me right now.

Thank you again. I hope you are having a fabulous evening and staying positive and knowing how much LIGHT and HOPE you shed here at this platform… you are so appreciated))

Truly, La11