Diagnosis of probable als despite emg after about 6 months

[Guillaume]

hi,
I was told to come back only when I had a diagnosis, so I want to make an update and because I saw that I was not the only one to have a very progressive presentation, and I want to help. (prev thread here)

My name is Guillaume, I am 27 years old and I have been diagnosed with probable als.

I am now very depressed, because I always had hope it was something else (however almost everything was rule out).

Despite a lot of full body clean emgs (the last was at 6 months), despite the fact that the many neurologists I saw dismissed the disease each time, telling me it was anxiety or a functional neurological disorder. I even had treatment for lyme which didn't really work.

So I had several emgs all perfectly clean for months with a good clinical examination too (just very brisks reflexes). However the atrophy of my tongue, bulbar symptoms are quite specific and alerted the last specialist I saw.

For those who have follow, it has been 6 months since I had als symptoms :

- generalized cramps! (it’s painful and migratory)

-fasciculations all over the body

- muscle weakness and wasting, especially in the hands (difficulty writing and using my phone for example) and legs

-slight slurred speech and tongue atrophy (it’s started at 5months)

-difficulty in breathing
Twitching and fatigue spread all over my body in a few weeks, but the progression of muscle wasting and the installation of cramps took place in 6 months, and it's also only been a month since my tongue is affected and my hands are losing more muscle.

Unfortunately for people in a case similar to mine, the presentation of the disease is therefore insidious and neurologists can miss it for a long time, resulting in depression.
I don't really know what to do now
I'm physically and mentally exhausted, because I believed i was totally cleared during months.

Thanks for your help, I know you do your best

 

[Nikki J]

I strongly urge another opinion. I can think of several people with histories like yours who were “ diagnosed” by ALS specialists who turned out not to have ALS after all.

I am also unclear as to whether this person diagnosed you with probable ALS or told you you probably had ALS.

I realize you are in shock right now but second opinions are vital - the more so when someone diagnoses you without a confirming emg which is against criteria. This is especially true when you have had emgs recently. The critical part of this is if the diagnosis is wrong you might have something treatable and miss a treatment window

 

[Bestfriends14]

So, you were officially diagnosed with ALS and put on Riluzole? Sent to an ALS clinic for appointments going forward? None of what you're stating is how ALS advances, so I'm curious if you were actually diagnosed with MND. I'm confused from your lack of ALS symptoms, lack of clinical presentation, and several clean EMGs.

 

[Guillaume]

thanks for your reply, it helps a lot !

About these cases, do you know what was their diagnosis ?

For the moment I have not been precisely diagnosed and redirected, but from what I understood, important part of others possibilities have been rule out,
and apparently some symptoms are quite specific (my tongue has lost muscle and is twitching at rest, slight bilateral hand atrophy and legs).
However they explain me the emg detects very few abnormalities.
it's also the fact that the doctor was sure it was lyme during months, except that after further testing and extensive treatment, it only stabilized my symptoms a little at best

I will try to see a good specialist I had already seen in may and who had explained me there was « no evidence for neuromuscular disease at this time ».

I’m not sure but from what I understood, some people can have ALS while still being able to build muscle and not having crazy weakness in the early stages, likewise there are many reports of people having ALS while having 'normal' EMGs.
and it can be a real challenge for the neurologist at the beginning.
I hope it’s not my case.

 

[Nikki J]

I think myopathy maybe but also some completely non neuro things It is good you are planning a second opinion

 

[fjay]

My name is Guillaume, I am 27 years old and I have been diagnosed with probable als.

For the moment I have not been precisely diagnosed and redirected, but from what I understood, important part of others possibilities have been rule out,

Can you clarify exactly what the doctor told you? Did the doctor actually say it was "probable ALS" or "probably ALS"?

 

[Bestfriends14]

If you have not been diagnosed, why did you say you were?

 

[Guillaume]

because for me a probable als diagnosis is not an « official final diagnosis », that’s why I said it’s not precise for me.

There may still be a little hope depending to the second opinion and above all, if ever the emg does not deteriorate as the neuro thinks ?

I’m not sure but apparently the emg must show very particular signs much more pronounced than what the last one shows. However I’m only at 6 months in, that may not be enough?

 

[KimT]

I'm sorry you're going through all this. Usually, EMGs show abnormal long before symptoms become clinical. When my EMG looked like clearly ALS and widespread, I had little clinical weakness and the fasciculations were in one limb. But the EMG was bad enough (showed chronic and active in three out of four areas tested, I believe, that the doctors gave me possible even before the weakness showed up but after a significant number of other tests were done.

When you go back, ask the doctor what are the other things on the table.

I can think of a lot of things that I'd be testing for as a doctor but I'm not a doctor. So, let your doctors take the lead and remember to ask questions.

 

[Guillaume]

Thank you for your message Kim, it really helps me !

Yes I hope that there are still other possible diagnoses, knowing that if I understood correctly, it would be uncommon with a normal emg, but not impossible unfortunately.

It is especially the atrophy of my tongue and my slight slurred speech that are very bad prognosis. I have also bodywide cramping, and it’s VERY painfull.
Can we have pain like that in the symptoms of the disease? I had read that no, however my cramps go from one muscle to another and I want to take doliprane and a lot of magnesium.

But maybe one or two other diseases can also cause tongue atrophy and cramps/twitching?
I will ask this question on the second opinion, but I don't want to get my hopes up.

it's an in-between that makes me very nervous and stressed !

 

[KimT]

I know but just hang in there. I use magnesium cream along with oral magnesium. There was a lady in the pool today who had a bad cramp in her foot. She had no idea that magnesium might help.
Make sure you're gently stretching your muscles. That can sometimes help cramps. Lots of water, limit caffeine.
Wishing you all the best.

 

[Guillaume]

Thank you very much for your help,

I was able to see the other neuromuscular specialist again, and he gave me an emg.
He told me that he found nothing abnormal, and therefore that I did not have als in his opinion. He saw that I was losing muscle in my hands, and that I had tongue twitching and slight atrophy, but he said the emg only is the most important, and tried to reassure me.
so he saw that there were problems, but he said it's ok since the emg is clean. So we can lose muscle in hands and tongue and have clean emg ? I don’t understand. maybe it’s not very sensitive.
I hope he is right.

However he wants to do another emg in 6 months "to reassure me for good", this worries me because I am afraid that he has a doubt about a very very progressive form, and that he hides it from me by saying that.
So I will be very worried for months.

Thanks for your help

 

[Nikki J]

Doctors don’t lie and withhold information. You have had multiple normal emgs. Not just this one. The emg did not show anything because your symptoms have some other cause apparently. Emgs are pretty good especially when there is atrophy.

I am sorry you are going to worry for months. You are wasting your life whatever is wrong with you. Is worrying going to improve anything? I don’t think so

 

[Bestfriends14]

You were told the last time not post again unless you had a definite MND diagnosis. Yet, you were disrespectful enought to 1. Post again even though you were told not to and 2. You were dishonest and said you had a probable ALS diagnosis, which you do not. Another disrespectful move. Was it to garner pity from those living with this terrible disease? What was the reason?

You have also been told several times that you do not have ALS, but your refusal to believe this, even though you have no symptoms supporting ALS, is evidence of a seriously unhealthy illness/ nosophobia disorder. Getting help for that is the path you should pursue. You should not continue your fixation on ALS. Your life is wasting away as a result.

I hope you get the help you need.

Good luck to you.

 

[Guillaume]

it’s true that my results are reassuring, that’s what keeps me hopeful.
But why don't you consider as possible cases of very slow form and with very very progressive atrophy, this does exist, cases where it takes a year or two of EMG to know what is going on at the end.
My neurologist gave me 6 months more of waiting, and I don't understand how you can be so sure and definitive, just because it's not the mode of presentation you know..