Why are my muscles twitching like this with negative EMG? (History and Videos)

[lovelyregina]

Hi all.

31, F, USA, 5'1, 140 lbs, Caucasian. Some smoking, drug, and alcohol use in the past but quit 10 + years ago except for the occasional glass of wine.

I have been having progressive and well-documented muscle weakness since March 2023 which is symmetrical and mostly proximal in legs, torso, arms, and neck. I also have a lot of widespread muscle twitching/cramping and unusual burning/squeezing sensations throughout body. As of September, the muscle twitching is notable in my diaphragm and ribs and I've also been extremely short of breath with high BP, requiring an ambulance trip to the ER. Lungs were clear so they sent me home with a referral to a pulmonary doctor who I have not seen yet. I use a cane to walk as of August due to weakness and have had a few minor falls. I am unable to fully wiggle the toes on my right foot.

A full medical workup has been completed-- there has literally not been a single flag in any of my bloodwork, 3 MRIS, or two EMGs other than very low levels of voltage gated potassium channel antibodies. I currently am prescribed Mestinon 60 MG 3x daily but seronegative myasthenia gravis has officially been ruled out by a specialist... it still works very well to manage my current symptoms.

History includes ASD, psychiatric issues, and seizures. Neurologic illness of all sorts runs in my family (Parkinsons, CJD, autism, seizures, stroke). Previously I was very physically fit and healthy-- ran a full marathon in 2019 and backpacked/worked out regularly. I have two masters degrees and a full-time job that I love very much.

Because of negative labs and complicated mental health history, my doctors are basically now dismissing my symptoms as psychosomatic, and this is in my medical record. I really want to believe them but it really just seems impossible now with the way things have been progressing. I am anxious (obviously) but not in any psychiatric distress. My physical therapists who I have been seeing for almost three months do not agree with the neurologist. They say that I have clinical weakness and cogwheeling which is a clear sign of neurologic insult.

Link to videos of muscle twitching attached. I can't understand why the EMGs didn't/couldn't pick this up and why no one seems concerned. Could it have been completed/interpreted incorrectly or at the wrong time? My muscles did not twitch once during the entire test even though it occurs at least every 10 minutes otherwise. This test seems to be the only thing that will differentiate between one hell of a conversion disorder or a completely devastating diagnosis.

Because of recent breathing issues, I am more desperate for help and it will likely be several months until I can see a different neurologist who might actually look beyond the lab work. I'm very anxious, having A LOT of difficulty exerting, and not sure how I can best manage this while I wait. Any advice would be so greatly appreciated!

 

[Nikki J]

Videos and pictures are unhelpful and not allowed. Benign twitching often does not show on emg. If you had ALS causing it it would.

Who confirmed your weakness? It is they who will tell you what it could be. Proximal onset pf weakness is unusual in ALS even without normal emgs backing up no ALS.

We can not diagnose you but it doesn’t sound like ALS. You are getting a second opinion if they concur with opinion one believe them

Read this Important - READ BEFORE POSTING! Answers to common concerns about possible symptoms

 

[lovelyregina]

Apologies, I admit I did not read all the rules and thought the links would be permitted.

Weakness was first confirmed by an orthopedic doctor in March (prior to weakness, I had some lower back pain, lumbar MRI showed nothing significant). He recommended seeing neurologist.

Six months later, my regular (movement disorder) neurologist noted weakness and full body myoclonus. She does not treat symptoms so she referred to neuromuscular doctor who also noted weakness. Then two physical therapists and another generalist neuro who ordered most of testing and referred to specialist to rule out MG. I 100% have abnormal reflexes. The referring neuro had conversion disorder in differential.

The last neurologist I saw was an MG specialist at Penn who looked at me for all of about two minutes. He was the one who told me this was not MG and probably psychosomatic. When I pointed out SOB/ high BP at the appointment, he told me a long-winded story about how he gets SOB when he plays soccer and prescribed an antidepressant which I am not taking because I am not depressed. I hate being accusatory but it felt like gaslighting and I left the appointment feeling very confused. Two days later is when I landed in ER... Needless to say, I don't completely trust his opinion but having trouble getting an appointment elsewhere right now.

 

[lgelb]

SOB/HTN should be seen by a cardiologist, ideally before the pulmo. It would help if you can monitor BP at home several times daily with notes of the context, and bring in the data. It is worth noting that your BMI is high and can contribute to HTN/SOB.

Whoever wrote you the Mestinon should be following you to figure out what/why it's helping.

Without knowing all your meds, if you are on anti-seizure and/or other neuropsych meds, those can cause their own issues in terms of muscle issues. So re-evaluating your regimen could be a consideration as well.

I see no reason to worry about ALS.

 

[lovelyregina]

Thank you. I'm very grateful for all the reassurance here.

The fact that weakness responds to mestinon likely indicates that this is a muscular condition unless there is a placebo effect. I have not taken any other meds since 2019 except an occasional muscle relaxer or advil.

The reason I'm so worried about the SOB is because it started approximately two weeks after I noticed my diaphragm vibrating/twitching and has been getting worse since over the past month. Weakness started in March, twitching came on rather suddenly in upper legs and face in early August, EMG was in late August (one leg and arm), and now the twitching is present throughout body and is very noticeable. I've also never had any breathing issues before and despite being slightly overweight, was in excellent shape physically when this all started.

There's very little else to rule in/out at this point but will be getting a full psychiatric evaluation as well since conversion disorder is still a real possibility with negative EMG. Praying this is "of the mind" but I also do not want to delay medical care if it is not.

 

[lovelyregina]

Update: Pulmonologist said this is almost certainly a neuromuscular problem because of abnormal reflexes (he checked himself) and response to mestinon. He said if diaphragm is weak or isn't being innervated correctly, even small viruses might trigger the sorts of breathing issues I've been having. He set me up with some meds so hopefully I can stay out of the hospital long enough to get to next neurology appointment. Going to try Columbia this time since I had a very bad experience at Penn and I've seen/heard good things here. Will keep updating on this thread.

 

[Nikki J]

Did he do or order pulmonary function testing? Neuromuscular ( even if it is) is very broad. There are many causes of respiratory problems including mg

 

[lovelyregina]

He ordered it but I have to schedule still. SOB is very apparent, even without testing.
He did some reflex push/pull strength tests on legs and arms which were abnormal (not sure what this is called) and he said he believes the same reflex is happening in diaphragm, possibly aggravated by a small virus or irritant. I feel my diaphragm twitching at least several times a day and it usually wakes me up at night.

I did not test positive for MG antibodies, my symptoms are not consistent, and I saw an MG specialist who ruled out seronegative MG. I have been given every neuromuscular test available I think at this point -- all negative!! This is why the negative EMG is such a mystery given the extent of the muscle twitching and other symptoms.

 

[rmt]

The mestonin helping would suggest a neuromuscular junction issue. Or a placebo effect. It would not help if it is ALS, as far as I know.

 

[lgelb]

There are other NMJ disorders besides MG. Some, such as Lambert-Eaton Myasthenic Syndrome (LEMS) come with dysautonomia, which could relate to the hypertension, and do respond to Mestinon along with other drugs. Normally there would be EMG findings...undoubtedly there are other variants.

No doubt, Mestinon wouldn't help in ALS. The mechanism is all wrong.

 

[lovelyregina]

Thank you again everyone for the reassurance.

I was just reading about LEMS and the symptoms do appear somewhat consistent with what I have been experiencing. However, I have had a full paraneoplastic antibody panel (negative) and testing for VGCC which was negative. I have a clear chest x-ray and NO EMG findings which would also be seen in this condition. The MG specialist told me verbally it did not look like LEMS.

As far as Mestinon... it is kind of a godsend. If I don't take it, can barely make it 200 feet without my legs burning out and can't maintain posture at work for long periods in a chair. On it, I can usually walk a veryyy slow mile with a cane and lots of breaks. I'd say it get's me to about 50% strength. Breathing, voice, strength, and endurance all improve significantly for about 3 hours after a dose. I had a lot of symptom fluctuation (swings) when I first started it but now as long as I keep taking it there are very few side effects. I will notice that when it wears off my muscles are often sore and achy in addition to weakness -- like I've been lifting heavy weights.

Something is being missed somewhere....

 

[lovelyregina]

Update: This whole thing keeps getting weirder. After routine appt, my neuromuscular doc sent me to ER so I could get IVIG (responding to mestinon so suspected seronegative MG).

I was admitted and the order was cancelled at the last minute by hospital who disagreed with the recommendation... said not MG (symptoms not consistent). I sat in the hospital, had a < 5 minute consult with one of their neuros who wanted me to get lumbar puncture. I refused because none of the other doctors I saw previously thought that would be useful and I've already had full autoimmune blood work-up (negative). Discharged with no plan except for MRI of thigh.

Subjectively I feel I am getting worse every day... My voice is deep and breathy, I am starting to lose more strength in my neck and by evening I am straining to keep my head up comfortably. At a loss for what to do next... my doctor is really trying but there are still no answers and no plan for treatment/management.

 

[lgelb]

I'm sorry, neither needing to go to the ED to get an infusion nor the ED's being able to cancel the order of a doc w/ admitting privileges, makes any sense to me.

I see you have been to Penn, but there are other good neuromuscular programs in Philly, and, of course, in New Brunswick and NYC.

Still not sounding like ALS, though.

 

[lovelyregina]

Thank you again for your response and the reassurance. My family wants to drive me to ER somewhere in NYC (it's about a 2 hour drive) to see if they can figure this out but I doubt they would say anything different than what I've already been told. I'm about done with doctors after this week.

 

[lovelyregina]

This will probably (hopefully) be final update on this thread but wanted to close it out in case anyone had similar symptoms and was looking for reassurance here. Good news below.

I got an appointment at Mayo Clinic and they were incredible... Since most testing had already been completed, they only ordered a repeat EMG (including single fiber on forehead), some breathing/swallow tests, and blood tests. They also did a clinical exam that was about 10 times as thorough as any I had received to date.

EMGs came back negative (again) but they were able to confirm the presence of fasciculations via multiple videos and clinical exam and diagnosed cramp fasciculation syndrome. They explained that the EMG will only pick these up if the needle is placed in the exact spot where they occur, which isn't always possible. If it was ALS, they said the pattern would present differently and likely be picked up by EMG in addition to findings that would indicate damage to muscles.

Even though I do have clinical weakness, they strongly feel this is because of a a combination of functional neurologic disorder (FND) and physical deconditioning, which can be more severe for people who were previously healthy/active. They don't know what caused it, but I highly suspect everything was set into motion when I passed out several months ago.

There is nothing wrong with throat muscles either-- FND is causing trouble coordinating breathing and swallow which is why I'm constantly coughing/gagging/short of breath. I also have mild sleep apnea and heart/blood pressure issues that will need to be dealt with separately.

So overall, the constellation of symptoms is very scary and weird, but NOT ALS!!! I will be doing intensive PT, and if doctors are correct (which I finally believe they are), my physical mobility and health should improve. Would highly recommend taking the trip to Mayo Clinic if you have any concerns.. you will get help, answers, and in my case, peace of mind.

Wishing you all a wonderful holiday!