concerned about a suspected ALS that has not yet been confirmed

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juleva81

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Good afternoon. First of all thank you very much for making this effort to respond to people like me who still do not have a clear diagnosis but are suspicious and afraid of having ALS. Much encouragement in your fight -that may be our fight as a society-. Sorry for my English, I will try to summarize my process but it will be difficult for me because it is a long process and it worries me a lot. I am 38 years old the mother of two little girls.

First I will say that I have Hashimoto's Thyroiditis, with the hormones controlled but with the Anti TPO always elevated - usually at 500, now they are more than 1,000-.


In April- May 2019-, after a viral process -for which I lost my left ear hearing for a month-, I started having problems such as very intense occipital headaches for which I had to go to the emergency room to receive treatment. There they referred me the first time to a neurologist. He saw something abnormal on the scan, hiperreflexia in legs and myokymias in the eyes, and he asked me if I had had these movements in other parts of the body on a regular basis. This is how I realized that indeed, I had fasciculations all over my body. At first more isolated, then they became generalized and more habitual, sometimes some persist for weeks in a muscle group, and there is almost always a small continuous movement in my legs that is not always seen, but it shows. This at first was without weakness, so I didn't worry too much. The neurologist then asked for MRI of the brain, which showed "small foci of gliosis in the subcortical region of the bilateral parietal frontal lobe, of microvascular origin." Also cervical resonance, which only showed rectification of the lordosis, but without myelodradicular involvement. He concluded that they were tension headaches and prescribed physical therapy. I did, and I got better from the headaches -persist a basic pain, but not the terrifying one-.

But son -september 2019- I started to notice weakness in my left arm. At first it was a strange feeling in the little and ring fingers and heaviness of the forearm, where I lost a little force against gravity, it is as if everything I do with that arm was done with a weight hanging from it, and objectively it is less muscular than the right.

Almost at the same time my voice began to change, until I was unrecognizable, and I had trouble swallowing liquid or thick things like yogurt. I had several laryngeal spasms that scared me for long seconds.

I visited the neurologist again, and this time after seeing the symptoms and fasciculations and hyperreflexia he referred me to neuromuscular. The neuromuscular specialist found in the examination "symmetric hyperreflexia, which slightly lifted the palate, 4/5 strength in the left arm and extensors of the fingers of the left hand." He literally said "there is a motor neuron problem." And ordered an urgent EMG. The next day, October 31, they performed a full EMG that was normal. The neurologist then told me that she should come back in 3 months to be checked. The world fell on me, because with a normal EMG she couldn't tell me a diagnosis of ALS, but she saw things on the examination that made her assure that it was the motor neuron. I was very confused.


During those months of waiting I looked for another explanation to some of my symptoms. I went to the otolaryngologist, who told me that he had pharyngo-laryngeal reflux and the larynx very affected by it, and said that according to him that justified the voice problems and dysphagia. A gastroscopy ruled out other problems. Seemed more like a motility problem. He gave me esomeprazole and very slowly I recovered my voice -not entirely normal- and normal swallowing, although it is not complete, there is always a kind of mucus in my throat.


In February I returned to the neuromuscular specialist. My symptoms were the same - except for the improved voice and dysphagia-. She explored me again, and as she had not advanced in 3 months - although the left arm weakness and fasciculations and hyperreflexia were still there - she said that it surely would not be the motor neuron. He told me to seek rehabilitation for the arm.

But the covid pandemic came and I couldn't start. I did this recently, but I really don't have good results. Fasciculations persist. The weakness of the left arm reaches to the neck, but I notice it especially in the forearm, more intense than before. I cannot make the same force with that arm as with the other and in certain positions I tremble and tire.

At the same time, I notice a lot of tension in my legs, which are even too strong for the little exercise I do. And my left hand and arm have lost muscle.

I did a recent test and Antinuclear Antibodies (ANA) were also high in 1: 320 homogeneous pattern. They are the only ones, along with the Anti TPO, that I have high. I have folic acid and iron a little low almost always, I am taking supplements but not noticing clinical improvement, and celiac tests are negative.


I am very worried because the arm responds to me worse and worse, now with tension in the palm of the hand and discomfort at the elbow too, and now getting an appointment with a specialist is more difficult. Also, I don't really know if I should see a neuromuscular or perhaps another specialist again. I also wanted your opinion on the EMG, because I have read on your website that there is no EMG too early, but I have signs of the first motor neuron that made a specialist suspicious, and I do not know if I can be calm or look for another EMG of discard or confirmation . Or maybe there is a doctor here who can guide me to another pathology.

Attached the emg for October, is in Spanish but the summary says that “there is no significant neuromuscular involvement”.

Sorry the post length. And I appreciate your opinions and help in advance.


Than you very much.
 

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affected

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I'm so glad to tell you that your symptoms don't even slightly suggest ALS and your EMG confirms there is no neuromuscular involvement. Please go back and discuss with your neurologist and ask what is next, but it isn't ALS. I'm so happy for you!
 

juleva81

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Do you really believe it? I hope you're right ... although I've seen many doctors in this process, the words of the neuromuscular doctor - head of a reputed Ela unit - who is supposed to be the specialist, always come back to my mind. She said bluntly after exploring that it was a motor neuron problem ... and since my symptoms are slowly getting worse I can't get those words out of my head because she was convinced. I hope she was wrong. Thank you very much for your response. My best wishes for hoy and allí the members if this forum
 

Nikki J

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Your pronouns in the initial narrative are confusing but it seems as if the initial statement about mnd was premature to say the least. Your clinical exam alone as reported does not support such an emphatic statement and it preceded the emg which did not show mnd.

in February you state some neuromuscular expert said NOT mnd. I am unclear as to whether this was a different person than the one who said it was but the fact remains it was a later point in time with more evidence ( normal emg and no progression plus improvement of voice and swallow which wouldn’t happen with mnd)
 

juleva81

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Sorry for my English again and thank you for your answers... Yes, the neuromuscular specialist who said in October that there was a problem with the motor neuron was the same specialist who in February said that the motor neuron did not seem due to the evolution and the normal Emg. And that's what left me most uneasy. Because I have read that the examination by an ALS specialist is the basis of the diagnosis, and my symptoms continue to get worse, although slowly. And she is the specialist of a reference ALS unit in my country. I hope she was wrong, but it was so forceful that first time ... On the other hand, I have autoimmune thyroiditis from hashimoto and anti tpo elevated, and I've always hoped that was the cause of the symptoms, but neurologists don't relate it. And now in addition to the most obvious fasciculations I also have a kind of vibrations that are not seen, but are noticed, in areas with little muscle, such as near the tibia.
I am concerned cause other tests are negative.
Thank you very much for everything
 

Nikki J

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Your more recent opinion from the same person indicated she had changed her mind after a reexamination and an emg. Hardly cause for concern.
thyroid issues can cause similar symptoms and that was something they looked at in my rule out. I also have a friend who is a confirmed genetic carrier for ALS who had very worrisome symptoms that were ultimately found to be thyroid related not MND.
 

juleva81

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Thanks for your quick response, Nikki. The problem is that I have been taking thyroid medication for years and my thyroid hormones are controlled, I only have high TPO antibodies (anda ANA antibodies todo) ... but the doctors do not associate them with the symptoms. That is why there is always the question of whether the EMG was too early or if it will be a slow onset of the disease that the specialist saw - she went on to say that it was clear to her, and that she saw things that perhaps another neurologist with less experience would not see - . That is what always worries me. And I can't help thinking that the second time she had to "fix" what she had said the first time because she didn't have an EMG to confirm it, but deep down she thought she was right. This is an anguish for my head. Thanks again for everything
 

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The EMG was not too early. So sorry you have such anguish.
 

juleva81

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Good afternoon. I would like to update my situation and get your opinion if it is not too much trouble, always trying not to abuse your good will.

I have had an appointment with a neurologist - he is not the same person who saw me the other times because with this pandemic where I live now it is very difficult to have a medical appointment.

In this clinic, the neurophysiologist did a new EMG - very brief, he only pinched two muscles in the arm and two in the leg. But my surprise was that in the arm the EMG was normal but in the left leg, in the tibialis anterior, he said that there were increased motor units and polyphasia, and he spoke of denervation. I was very scared but the neurophysiologist did not give it importance because he said that it was surely a chronic denervation due to an old injury - I was operated on for a herniated disc in L5-S1 in 2015 but my affected leg was then the right, not the left- . It is true that in 2017 I had a control EMG due to the operation and polyphasia and slightly increased units came out in my right leg - but in the right, not the left as now-. But I told him that I had other EMGs from this year that were completely normal and I showed them to him, and I told him that I did not understand how this denervation could now come from an old injury in an area where nothing has recently appeared in other EMGs. But the neurophysiologist did not answer my questions because here it is common for the neurophysiologist to speak with the neurologist of the test, not with the patient. And then the neurologist did not solve my doubts either and gave me his report with a diagnosis of BFS, but without providing the EMG.

I do not understand anything. This has only increased my anguish. My questions for you, who know a lot about EMG in ALS, would be:

- Is it possible that a chronic denervation from an old lesion has not been seen in previous EMGs and is seen now? Can a chronic denervation come and go and come back? The term "chronic" does not exactly mean that it is there all the time?

- Can it be a first electrophysiological sign of ALS to have increased motor units with polyphasia if there are also fasciculations?

Although my examination is not completely normal due to hyperreflexia and fasciculations, until now it only reassured me that my EMGs were clean ... but now with this new I don't know what to think ...

Thank you very much again for your help, it is greatly appreciated.
 

Nikki J

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Hi I am sorry for your anguish. I am concerned that you are unable to believe your doctors. Not do you believe us.

as your electrophysiologist said chronic denervation is not worrisome for ALS. In ALS we see the acute process WHICH DOES NOT GO AWAY first. It is then joined by chronic and we see both together forever in ALS.

chronic denervation is common and often a result of wear and tear rather than a major trauma like surgery. It can go away

your emg is not concerning. Believe the doctor who did it.
 

TippiLeigh

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Has your doctor mentioned anything about possibly being Primary Lateral Sclerosis (PLS)? It only affects upper motor neurons. Not fatal like ALS, thankfully, but I have many members in my different PLS groups that have several different ailments that made it difficult to be diagnosed. Some of those members also have initially had clean EMGs that later go on to develop lower motor neuron issues and are converted to an ALS diagnosis when they later have an EMG show those signs. (Not super common though, so don’t get too worried.) Just continue to be an advocate for yourself. Keep going back to your doctors and asking questions. You shouldn’t have to suffer with no answers.
 

juleva81

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Thank you very much for your responses. It is very frustrating not being able to leave a doctor's appointment calm and safe for lack of explanations.

Nikki, thanks for your clarification on chronic denervation in EMG.

TippiLeigh, my doctors have never especially told me about PLS. The first neurologist who saw me and told me that she was sure there was a motor neuron problem did not further specify what kind of motor neuron problem she thought. But then it's the same doctor who later said no.

I do not know if I have had bad luck with the doctors or I have not been able to ask the questions or I have a complicated picture with several things that make the diagnosis difficult. I do not know.

If I have any important news I will inform you here, if it is not a nuisance.

Thank you very much for all your help and a lot of strength to continue fighting. Best wishes to you
 
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