Seeking advice regarding the possibility of MND, complex symptomatology

[Mike78]

Hello all, and thanks for your assistance and patience.
I am a 41 y/o male and I would like to present my case with strong symptomatology towards a MND started 6 months ago, in june 2019.

Symptomatology history:

Starting beginning of june 2019:
-Slight weakness (muscle fatigue) started in june 2019, distally, first in the lower left leg. Sometimes calf cramps with stiffness mainly at night;
-Then in july it started slight weakness also in the left forearm (ipsilateral) and cramps;
-After physical exercise ( like kinetotherapy), muscle tremor mainly on left side;
-The weakness is more pronounced towards the end of the day. Also, lately more pronounced, especially in the arm, with tremor on fine movement (like holding the phone in left hand)
-Starting august 2019: increased frequency of widespread fasciculation episodes. Fasciculations are short-timed , spontan and aleatory. Some are seen, others only felt;
-Loss of appetite, lost 20 pounds during june-august 2019, then gained back 5-6 pounds;

-Starting september 2019:
-Dyspnea episodes (shortness of breath) mainly in supine position or in sitting position.
Normal ventilatory tests (september 2019- MIP 105%, MEP 82%, normal spirometry in supine and sitting position september-october 2019);
-Dyspnea seems to have amplified lately.

MRI head&neck scans:
- Non-specific MRI 3T imaging (a few spots, 4-5 T2 and FLAIR hypersignals, prevalent predominantly subcortical imaging, with aspect of demyelinating punctiforme areas-infracentrimetical, with peripheral distribution, imagisticaly non-specific). Same aspect in the second MRI (unchanged numerically and dimensionally);
-Spine: Normal BM thickness and a T2 homogenous signal; Disc protrusion T7 which compress the dural envelope and right side nerve root T7;

Other performed tests:
-Negative lumbar puncture in august 2019 , in order to rule out MS. Also, neurologists ruled out MS based on the neuroimaging aspect and negative spinal tap.
-Normal blood tests (including panel for autoimmune antibodies) and tumoral markers;
-Negative anti-neuronal and paraneoplastic antibodies;
-Increased seric mercury (11 μg/L in may 2019, started soft-chelation therapy, 6.3 μg/L in july 2019, then 3 μg/L )

-EMG 06.2019, normal, with the exception of a chronic left ulnar nerve neuropathy;
-EMG 09.2019, normal, left ADM-chronic moderately neurogenic, without repause activity;
-EMG 10.2019: normal mNLG phrenic nerve (left+right), normal Thoracic 8 right+Thoracic 6 left paraspinal needle EMG;
-EMG 11.2019, performed in a neuromuscular clinic in Italy, esentially normal (performed with multiple needling in each of the tested muscles-right masseter, right biceps, right vastus medialis, left APB, Tibialis anterior bilaterally).
I am attaching also the latest EMG study performed in november (it is in italian).
The neuro consult was normal, only mention is symmetric snappy reflexes (like brisk, good news is they are symmetrical, I don’t think this is sign of UMN).

My main concern and question is if this could be early MND/ALS based on all the symptoms plethora and progression, or I should look somewhere ?
The limb weakness/tremor in MND is a sign of LMN from what I’ve read. If no LMN are detected ( according to the EMG’s), could this be too early in the course of the disease, or in the ALS course the LMN neurogenic widespred changes can be seen from the point where weakness is felt.

Thank you for taking the time to read this long post, appreciate the help !

 

[Nikki J]

Look elsewhere. Follow the doctor’s advice whatever it is

you have by your report a normal neuro exam ( no clinical weakness’ but feel weak also apparently normal emg ( can’t open attachment)
breathing issues but outstanding pulmonary tests

you twitch which is meaningless without clinical weakness
you lost weight due to poor appetite. Not why PALS lose weight

 

[Clearwater AL]

Mike, Gee... your post looks like a Neurological Case Study.

Like Nikki said, "follow you doctors advice." You've 'bout covered it all here. "Look elsewhere."

Good luck.

 

[lgelb]

If mercury was too high, would focus on preventing/monitoring future exposure with legitimate doc, not naturopath.

Also would ask doc about sleep study to detect any disordered breathing

But of course, agree, you are in the wrong place here. Congrats!

 

[Mike78]

Nikki, Laurie, Clearwater,thanks for the feedback and advices.
A sleep study is scheduled.

I’m attaching part of the latest EMG as images, so it can be checked easier.
I can see on the left tibialis anterior activity some higher amplitude MUP’s ?? (the left side is the symptomatic one)

ALS is a generalised neurogenic process (acute and chronic partial denervation), which from an early clinical onset should be seen on EMG.
I’ve read studies on pubmed, for instance this one- The onset of amyotrophic lateral sclerosis which demonstrate that in the proper clinical context, early ALS is caught on EMG.
Others says that a median time of 12 months after clinical symptoms is needed in order for the neurogenic activity to be seen in electromiography.

What do you think on this ‘timing’ matter ?

In my 6-months clinical history (with some symptoms progression, for instance dyspnea, muscle fatigue and tremor) and with all EMG’s normal should I be worried for a ‘’negative’’ EMG type of MND ? (for instance a UMN dominant MND, like PLS)

If the reflexes are symmetrically more alive or brisk (no pathological reflexes), is this a sign of UMN ?

Thanks,

 

[KarenNWendyn]

Mike, your EMG is normal (the second panel). That clears you of ALS.
As far as being concerned for PLS, it would take more than brisk reflexes to raise concerns. Brisk symmetrical reflexes and even non-sustained clonus can be a normal variant and are not cause for concern. People with PLS have not only brisk reflexes, but also spasticity which is something a neurologist can detect on exam.

Muscle fatigue and tremor are not part of ALS/PLS.

I don’t see concern for a motor neuron disease in your story.

 

[Mike78]

Hello,

An update regarding my condition.
Unfortunately, the ‘big picture’ looks grim.

In the last couple of months the following symptoms have evolved:
-Postural hands tremor;
-Cramps in the left thigh and sometimes in left arm (left side is the symptomatic one);
-Arms tremor and sometimes hands/digits shakiness, especially after physical exertion (motor tremor ?);
-Increased muscle fatigability, mostly on the left side;
-Legs feels weak (like after intense training);
-Fasciculations slightly increased;
-Dyspnea persisted;

Neuro consult mentions snappy(alive) symmetric patellar reflexes. Also doctor mentioned billateral ankles subclonus (1 beat) as a normal variant.

Sleep study performed (no capnography): Light sleep apnea syndrome; Respiratory events index 7.4/sleeping hour(predominantly hypopnea); Medium SaO2-96%, Minimal SaO2-91%, PLMS index 14.6/hr (which is quite a lot, I have seen that in ALS the PLMS index is also increased). Sleep efficiency is 87.4%.

EMG performed recently this month by a general neurologist/neurophysiologist:

EMG performed in left anterior tibial, left vastus laterial, FDI muscle and EDC muscle right arm, APB muscle left arm and upper left trapezius. Doctor noted one fasciculation in left APB, otherwise no spontaneous activity, normal recruitment according to the degree of contraction.
Below you will find the EMG. I noticed polyphasism in left tibilalis (38%), doctor didn’t mention about this. Also, on page 4, you can see the fasciculation potential caught from left APB.

What do you think ?

-From june 2019-symptomatology started and progressed, until now, almost 8 months, you wouldn’t have seen chronic neurogenic activity, so that the EMG could be false negative ?
-Is it true that a median of 12 months after clinical symptoms is needed in order for the neurogenic activity to be seen on EMG ?
-Have you tried TMS (transcranial magnetic stimulation) for assesing UMN lesion ?

Any thoughts are greatly appreciated !

 

[KarenNWendyn]

The EMG (page 2) is normal. Nothing grim about it.
You don’t have ALS. Please talk to your doctor about what else might be causing your symptoms.

 

[Kristina1]

You have not described a single muscle failure- like not being able to zip your jacket, or having falls. Your tests are unremarkable. You don't have ALS.

 

[Dee Dee 0617]

Mike with the amount of sheer will and tenacity you have put in to your medical theory, I wish you were on our side. You my brilliant young man should be in medical school, doing research work to cure this thing, you are so afraid of. Mike everyday people ask if we think their symptoms equate to ALS, and God bless Nikki and Karen who are our science duo, they read every word and they answer honestly. I have yet to see a case laid out as precisely and cleanly as yours. Mike go back to school, you're fine.

 

[lgelb]

Falsely (-) EMG after several months of the sx you describe, no.
Median 12 mo. needed post-onset to see neurogenic lesion on EMG, no.
You have described no reason to suspect any UMN lesions.

If you have PLMD and hypopneas, no reason not to try BiPAP, which would likely improve your sleep quality and therefore likely some of your perceived weakness/dyspnea as well.

 

[affected]

Unfortunately, the ‘big picture’ looks grim.

gosh not even a little bit grim - congratulations!