Diagnosis since 07/2017: Possible ALS (bulbar onset) Weird Symptoms

[Lionsoul]

Previous thread here

Hello everyone,
I received the diagnosis of a possible motor neuron disease with bulbar onset in July 2017 due to fibrillations of my tongue and muscle twitches (EMG confirmed).
In the meantime, however, I have been to other neuromuscular ambulances that do not confirm this diagnosis so far (diagnosis: benign fasciculations and cramps).

For the past 6 years, I have had to deal with muscle twitching, exercise-related muscle weakness in my right leg and right arm, muscle pain, fine motor skills disorders of the left hand, and discrete swallowing of fluids. Neurologists also noted fibrillations of the tongue, atrophy of the right calf and the right tibial muscle, as well as the masseter, but the EMG shows no signs of acute denervation.

So far, the progress has been very slow without any major deterioration. I almost thought it had all come to a standstill.

Now, however, since June 2023, I have had problems with the mimic muscles of the left side of my face. The ring muscle around the eye, the cheek muscle and the masseter have also become smaller and weaker since then and I have minor problems chewing. However, I also have burning and stabbing pain from time to time. I don't have any language problems.
I wanted to find out in this forum if you know if there are such cases in which the facial muscles are affected first and the other bulbar symptoms are hardly present yet. I am in the 8th year since the onset of symptoms. Could it be something else in terms of differential diagnosis?

 

[Nikki J]

Hi would like to clarify as there may be translation issues. Fibrillations are only seen on emgs. They are not detectable on clinical exam. Fasciculations may be seen on exam and on emg.

7/17 your emg showed fibrillations and not fasciculations? Did it show anything else at all?

More recent emgs have been normal? And neurologists on examining you in clinic saw your tongue move which you said were fibrillations but are very fasciculations?

Has anyone done an emg of your facial muscles? It is possible. I had it done for research ( and they use smaller needles it isn’t horrible)

This certainly sounds unusual and sometimes there isn’t a clear answer. Whatever this is seems very slow progressing

 

[Bestfriends14]

Your "diagnosis" was overturned by a neuromuscular specialist in November of that year, so you do not have probable ALS. Further, you have no ALS symptoms. You've posted several pictures of "atrophy " yet you've not had any function failure which would lead to true atrophy.

In my opinion, you know you don't have ALS, but are continuing down a path looking for it. Could there be other diagnoses? Of course, but it's not up to folks here to play doctor. That would be doing you an injustice. 8 years of symptoms (not one being ALS) and many neuromuscular specialist appointments saying you do not have ALS. My advice would be to take ALS off the table and continue working with your doc.

Good luck to you.

 

[Lionsoul]

Hi Nikki,

Thanks a bunch for your quick response.
Yes, the fibrillations of the tongue were confirmed via muscle sonography (I hope this is the correct translation).
The EMG in the upper and lower limbs shows signs of chronic neurogenic modification and fasciculations, but no acute denervation signs and also a reduced innervation of the examined muscles. The last EMG was done in July 2023 by my neurologist, but only in one muscle (tibial muscle) and it only shows a reduced innervation and fasciculations.

 

[Lionsoul]

Update:
Hello everyone,
I was in hospital for 2 weeks at the end of November to receive a detailed diagnosis. EMG showed PSA in m. IOD of both hands (acute denervation), fibrillations in the tongue, discrete weakness of the tongue, right thigh and left hand. Mild atrophy of the tongue was also noted. A chronic neurogenic changes were not detected in the EMG. I was told that I was suspected of having atypical MND and had a genetic test done.

 

[Nikki J]

What are they looking for ? Kennedy’s disease?

 

[Lionsoul]

No, I am female.
The are looking for a mutation of SOD1 gen. I will keep you updated.

 

[Bestfriends14]

Your EMG showed acute but not chronic denervation?

 

[Lionsoul]

Yes, exactly.

 

[Bestfriends14]

Acute but not chronic is not ALS

 

[KimT]

Hi, I'm so sorry you're having such a long wait to get a firm diagnosis. As you know, clinical symptoms are just as important as EMG results. Nothing is set in stone, especially when bulbar issues are involved. The good thing is whatever you are suffering from is very slow progressing. I hope you get an answer but I'm glad the progression is slow.

Do you know if they did other genetic tests besides SOD1?