Questioning Possible ALS Diagnosis

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Tannerman12

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It has been 9 months since my original Dx of possible ALS. Dx was based on Fasciculations throughout and neuro exam, which showed no weakness or atrophy, and an EMG. EMG results were never really explained to me. Just trusted that the neurologist found some abnormalities. Referred to specialist at University of Chicago hospital. Specialist also Dx with possible ALS post nuero exam and EMG. Nuero exam concluded minor weakness on left side (however, he stated it was not too concerning) and hyper reflexes. EMG discovered fasciculations throughout and diffuse neurogenic changes (which I guess is bad). Dr. referred me to counceller and ALS association representative. 4 months later I visist the Rochester Mayo clinic to receive another opinion. The specialist there states that my nuero exam is normal, other than the muscle twitches and hyper reflexes. EMG performed just observed fasciculations throughout with no nerve damage. Dr. stated there is not enough evidence for a Dx of ALS. ????????? Follow up with Dr. at University of Chicago. No EMG, just pulmonary function test (which was excellent) and Nuero exam. Neuro exam concluded minor weaknes in left hand and arm. He changes Dx from possible ALS to Probable ALS and prescribes me muscle relaxers for the twitching and spasms. One month ago, got a forth opinion with different nuerologist. Post exam, he states that it is most likely benign due to twitching all over body. Mainly in upper extremities and abdomen, but no weakness. States EMG would be a waste of time. Insert question mark above my head. It's been 11 months since first symptom (muscle twitching in left tricep). I observed some weakness in left wrist and arm when working out or doing something strenuous. No atrophy observed. Even though Dr. at U of C stated minor atrophy in left deltoid. I still work as a fireman, and am capable of caring out my duties as one (dispite the occasional muscle cramp while working). I have a 20 month old boy and another due Feb. 20th. Terrified about the worst case scenario, but not convinced with the Dr. at U of C. Looking for some input, Thanks
 
Derek, I'm sorry you have been through all of this.I wonder what else made them diagnose you with probable and possible ALS - there must have been something else than just fasciculations. You said there is a weakness but then you mentioned one doctor said your exam was normal. You also noted the atrophy - this was not revealed by the doctors?Hyperreflexia might be the reason but do you signs of pyramidal tract extinction - Positive Babinsky, exaggarated jaw jerk, clonus, spasticity? Babinsky being the most signifficiant out of those.I assume because of the probably/possible dg of ALS that they must have found some other UMN issues as it is requsted by El Escorial. I really hope things will turn out to be better!
 
How very confusing for you. Try to get those first EMG results and maybe have someone explain them to you. Mayo Clinic knows their stuff. All I can say is I have heard these diagnoses go back and forth before. I wish you the best!
 
Derek,I feel sorry for you and I hope you get some answers soon. Hang in there my friend. Here's my question for you. In your first post, you said that Mayo diagnosed you with "Possible ALS". However, in today's post you say that your neuro exam at Mayo was normal and that they only found fasciculations on your EMG. How is that possible ALS? -Matt
 
Yes, Derek, as I look back through the few posts you have made, there are many inconsistencies. Do you have an accurate timeline of what happened at each of these places? It is unusual as I noticed in one of your posts that your diagnosis went from possible ALS later to probable ALS although there seemed to be fewer abnormalities in the second exam than the first. And do you know the result of Babinsky sign?
 
I noticed the inconsistencies originally as well as lack of important detail.Anyways, on you're current information I'll just say that weakness from ALS DOES NOT come and go. You know how people say a whole tonne of sugar coated *beep* or stuff that isn't really true 100% of the time? Well what I am saying now IS 100% true every time. Weakness from ALS DOES NOT come and go. It stays. If a neuro found weakness and the next one or two didn't that weakness wasn't caused by ALS.Since weakness is the main concern with ALS, that should provide comfort.
 
gamindoc1509: while your comment is true in its meaning, the weakness in ALS can vary - i.e. in the morning it tend to be better (when mild) and it worsens as the muscle get fatigued during the day. This is because the healthly muscle bundles compensating for the weakened ones just get tired quickly. Also theoretically it would be possible for one to miss it and another to spot it. It also depenends on the technique of testing and subjective evaluation.But I do agree there are inconsistencies in Derek's story and I really hope it is just caused by stress - because faking a MND diagnosis would be the sickest thing I can imagine on this forum.I was reading the post again and I believe the reason for his probable ALS diagnosis was fasciculations (LMN sign) and ASYMMETRIC brisk reflexes, which clearly points to UMN pathology.
 
Thank you everyone for your input. Although, I would like to encourage a more constructive retort to my post. My apologizes for not being more descriptive on the information from my visits to multiple neurologist. I have been to a lot of ALS specialist to find answers and it has been overwhelming. As I stated in both my posts the Mayo clinic did not have enough findings for a secure ALS dx. @ twitchydoc- My babinsky reflex was normal, no jaw jerk, and I'm not sure what clonos is. My muscles (especially in left arm/ hand) cramp up when flexed, but I'm not sure if that classifies as a spacticity issue. I do not know what UMN issues are or El Escorial. And please don't infer the possibility of a fictional MND diagnosis created by me, this is insulting. I would love to clarify any inconsistencies. My experience with receiving a dx has been inconsistent, that is why I am searching for constructive insight on this forum. @BobJazzy- I believe Mayo gave me the dx of possible ALS because they could not explain the muscle fasciculations and did not want to totally rule out the possibility of ALS.@gamindsoc1509- you stated there was a lack of important detail in my post. Can you please detail the important detail that I too lacked in my post. I would like to clear up any confusion in my dx, or lack there of.Again, any constructive would be helpful. Maybe a recommendation of a neurologist in the Chicago Land area. Thank you
 
Derek,I am not, by any means, suggesting that your story is made up. I am however, saying that you must be missing something in your clinical and electromagnetic findings. I also went to the Mayo Clinic. There is no way they would suggest ALS based on widespread fasciculations. I was able to show them fasciculations in all 4 limbs AND my tongue. In addition to that, the EMG picked up fasciculations and insertional activity in 8 out of 9 muscles tested. Their conclusion was that these were completely benign because fasciculations alone mean nothing in the absence of other clinical findings. Here I am 2 years later and I'm about to run a marathon, still popping like a popcorn machine all over, all day, everyday.So, what you said above about why the Mayo Clinic diagnosed you with 'possible ALS' can't be accurate. You might want to read the findings in the report from the Mayo Clinic to help clear things up for you.-Matt
 
Derek, I agree with Bobajojo on that...Just to explain you - El Escorial (or the Al Awaji revision) is a set of criteria that HAVE TO be fulfilled before one gets the ALS diagnosis."Probable ALS": Proof of both, lower and upper motor neuron signs in at least 2 body regions. The upper motor neuron signs have to be demonstrated rostrally tothe region of the lower motor neuron signs.There is no way you could get "probable ALS" without fulfilling this as this is the only classification used for diagnosis of ALS.Also there is no way you could have just fasciculations and receive that diagnosis. You either had to have pathologic reflexes, abnormally brisk reflexes with clonus or these and other UMN signs. I am not saying you do not, maybe you just missed that in the report. It is explicitly stated that fasciculations alone are not enough to diagnose a patient with ALS.Also you mentioned the first EMG was abnormal but later on normal. You definitely need to ask the doctor what is the reason for being given ALS diagnosis if the only thing you have is fasciculations. While it is not that unusal for some specialists not to rule out ALS when EMG shows just widespread fasciculations, they cannot diagnose ALS based on that - they would violate the diagnostic rules of El Escorial, could cause insurance problems, risk a lawsuit. This is why I believe there must be something else supporting the diagnosis.It is a great difference between not ruling out ALS completely and giving probable ALS diagnosis...
 
HiLike Matt I have had widespread fasciculation recorded on three separate emg exams. Present on average in half of locations tested, i.e. four of eight muscles tested,, though never any thing in paraspinals. Was told by all three neurologists completely independent of each other that they were meaningless. I had no other abnormality,no losses on emg. All of the Nero physiologists I chose to perfom my emgs were part of teams involved in MND/ALS research or diagnosis. I had clean clinical also. I certainly remember asking if mnd may still be possible due to widespread recording of them, and was told certainly not. He said if my clinical had been questionable he would have considered a further review. I have been in this hell for 2years 5 months. My doctors were consistent in their opinion even though they were from different parts of the country, widespread fasciculation but no ALS. Obviously it is a worry and confusing to some of us that you have been classed as a probable and possible based on as you say widespread fasciculation only. I feel terrible for you being in this position. What will be your next move as you must be able to find a way to consolidate all the info and get a clear diagnosis, hopefully get on with your life. My young children love to point out my widespread fasciculation, I hope their game is still innocent considering the interpretation you have had on the significance of this distribution. Keep strong.Helen
 
I think the problem here is semantics. Technically, there are no "possible" diagnoses. My neuro flatly told me she couldn't rule out MND 100%. Was this a "possible diagnosis" of MND? No... That would be as helpful as saying someone is possibly pregnant because they had nausea in the morning or had missed their period. You either are or you aren't. You either have als or you do not. Unfortunately, there is no one definitive test. There is no point in entertaining probabilities even with the familial variant, IMO. And I really can't see doctors playing that game.
 
Just thinking that on EMG not all fasciculation are equal. I think those with complex unstable morphology, may carry more significance, than those of us with simple FP. I was told that the latter were more often associated with bfs, especially if they retained this morphology in a follow up. Emg. This is the one advantage of getting FP recorded so they can distinguish between the types or so they told me. Despite this I am still not convinced that even complex widespread FP on their own are enough to fufil the internationally recognised guidelines on what neurologists are proffesionally allowed to call POSSIBLE ALS. I thought there had to be UMN signs. It certainly doesn't, come close to a PRoBABLE. Criteria. For those who don't know the words possible and probable Als are defined medical terms and not random statements neurologists use.Derek has a young baby and I am glad he has started to hear the word benign. I love RainCats story and have followed his and also (name escapes me but guy who got ALS diagnosis then got it reversed). They have been where Derek is but got it resolved,and seem to have come out stronger. Thoughts are with you derek, stay strong and hopefully black cloud hanging over you will go away soon.Helenx
 
LostLamb: you are right that complex, unstable FPs are more suspicious and more often seen with denervating diseases. However, they are still just FPs and hence there is no way one could fulfill criteria for probable ALS. But Derek did mention hyperreflexia. The reflexes would have to pathologically brisk with spreading or clonus to count them as a clear UMN sign. But LMN would be still missing, fasciculations are not enough.
 
I would also encourage you to differentiate between an off the cuff comment with significant context where the doctor may have inadvertently said "its possible" to ALS ... versus an actual diagnosis.There's a huge difference between what doctors rattle off in conversation, and what they write down at the end of the exam.So is it possible this was a conversation versus a diagnosis, written in exam notes?As a side note, I had one of the top cancer specialists in south florida tell me it *is* ALS ... right to my face.Fortunately, this was after a full year of pep talks (from people here) to the contrary, so his comments did not amount to a hill of beans in my mind. Doctors are just people and they often talk a lot of nonsense. Although I'd expect more from Mayo, it may have just been a "remote possibility" they were mentioning.
 
Yulia once mentioned to me the term "information hygiene". When you have anxiety I would have to caution where you get information. My heart goes out to Derek, as I'm sure this is a very trying time in his life. With that said, there are many missing pieces to this story, I'm surprised this hasn't been discussed in this thread. ALS is a diagnosis of exclusion. You can have migrating hypereflexia, with clonus, Babinski, Hoffman, weakness and atrophy and most of the time it's still not ALS. There are many common causes of these even in the cases where there are no sensory deficits.Let me give two examples...I have a co-worker who went into his FP who noticed thenar atrophy, no other symptoms. How many people here would assume they had the big dog? Well he had a nerve lesion in that arm...yes without pain. The most common reason is for someone to have a cervical myelopathy, or some lesion of the spinal cord. While most of the time there is pain, that isn't always the case. Sometimes it's just weakness and pathological reflexes. I have seen this same set up in the case of alcoholics going through DTs. The Babinski is so strong you can stroke the stop of the foot and elicit it. Clonus 4+ reflexes, gait abnormalities...the works.Most of the time when someone presents with concerns to the neurologist about ALS, they get sent home with get out of here...you are just anxious. But, with Derek he had weakness and issues with hyperreflexia. In that case, you can't rule it out on the front end until you do more testing. But, you don't just sit back and wait. And what I'm not reading about is blood work looking for systemic causes, MRI of the head and neck looking for other CNS causes etc. Hyperreflexia without clonus or a pathological reflexes is considered 3+ and that is still a normal reflex if symmetrical. Even in a case where you can elicit a 1+ patellar, and a 3+ patellar bilaterally without clonus or Babinski...most of the time its not ALS. Usually there was an old injury causing this...just raises your eyebrow a bit. You ask questions. And again, fasiculations all over the body are not ALS. The disease process doesn't work that way. You will have hypperreflexia, then weakness, then atrophy, then fasiculations. Many times its in that order. I will not say always...but usually. It's also usually going to start in an isolated limb...AFTER you already know something is clearly wrong. Rare presentations of a rare disease is not something people with health anxiety should focus on. So, if you are reading this thread losing your peace of mind...STOP it. And this is the problem with hinging your peace on the stories here or anywhere. Most of the people who come here have health anxiety. We look for solace with stories, but with that comes stories like these come the occasional story that shakes you up. Our peace HAS to founded somewhere else or it will always be fragile. Today choose faith and acceptance. Stop trying to control the uncontrollable. BTW this lil pep talk is for me as well ;)
 

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