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early onset questions
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early onset questions

Hi. I am a health professional who is peripherally familiar with chronic neurologic disease / rehab, and thus I know just enough about ALS to keep me extremely anxious about my symptoms. I could really use your help.

I have had tiny little, very rare twitches in my calves and face for at least 2 years. Suddenly, out of the blue, one month ago I was ripped out of sleep with diffuse, intense fasciculations, mostly in my deltoids, triceps, calves, hamstrings, and quads. Yes, I am sure they are true fasciculations. This continued for days. They were everywhere. Face, chest, legs, arms, but not so much in hands, tongue, or back. Then, 2 weeks ago they quieted down, only to come roaring back in new places last week. Now it's mostly face, arms, hands, and now I've had a couple of fasciculations in my upper back, neck, and I think I saw a tongue fasciculation just yesterday for the first time. I do not have any weakness that I've noticed, but I am concerned about an asymmetry (a very noticeable depression that has been corroborated by confidants) that runs the length of my right anterior thigh on the lateral side that is only really apparent when going from sitting to standing, or with deep knee bends. The diameter of my thighs is identical at 2 points (I know, it's psychotic), and my leg extension strength as measured at the gym is actually stronger on the right.  Interestingly, this groove almost disappears at full weight-bearing extension. I am an avid snowboarder and soccer player, and I use my legs fairly differently during these 2 recreational activities. I also have fairly severely injured both my knee and hip on the right side over the years, and never had that worked up from a medical standpoint. At rest, my right foot is externally rotated by about 15 degrees, versus my left, as a result (I am sure) of one of the knee injuries.

I have been evaluated by a neuromuscular specialist, who did a very brief neurologic exam (according to others with whom I have shared my story), during which his only comment was "not much reflexes".  He found normal strength, and didn't really seem to check very closely for atrophy (at least as far as I could tell...). He said this was benign, and did not want to perform an EMG.  He ultimately agreed to do so, and it was recently performed by the specialist and fellow. However, during the EMG they only needled 3 muscles (R delt, L calf, and R thigh).  When asked, they did not want to proceed any further. They were sure this was benign. One muscle had fascics (3), and none had fibs or positive sharp waves.  They did not sample the muscle in the right thigh that I am concerned about atrophy in, and neither of them were interested in looking very closely at it. However, they did sample the muscle on the medial edge of the anterior part of the same thigh (vastus medialis?).

My questions specifically relate to early ALS and motor neuron disease diagnosis, and the use of EMG to assess this. I have read that in one case series almost 7% of people reported isolated fascics as their only presenting finding (although elsewhere it is reported as "extremely rare"). I have also read that EMG at this stage might be negative. I am also concerned that I might have early stage atrophy as well, in my right thigh (which was not sampled with EMG). It would benefit me greatly to have your thoughts on your clinical experience with ALS and early diagnosis.

I am not asking you to make a diagnosis. I just don't know enough about the timing of fascics vs atrophy vs weakness, and the focality of findings (or not) in early disease. All of the papers that I can find on early diagnosis/natural history state something like "in its early stages the disease can be remarkably focal", but this is never defined. One limb? One compartment? One muscle?

Based on your clinical experience,

1. Can one single muscle, that hasn't been fasciculating terribly badly, progress all the way to atrophy while neighboring muscles, also fasciculating for just as long,  maybe even more frequently, remain completely unaffected (normal EMG when sampled)? Put another way, should I be reassured that the asymmetry of my right thigh is NOT atrophy based on normal EMG of a neighboring muscle?

2. Can multiple muscles fasciculate while only one or two start to show denervation? How many muscles must be sampled before one is reasonably reassured?

3. How far out from onset of widespread fasciculation should one be reassured on the basis of a sparsely sampled EMG? (3 months has oft been quoted on these threads for 'full' EMG)

4. Does the fasciculation correspond with muscle weakness/atrophy, muscle for muscle, or can widespread (versus focal) fascics happen before single isolated, maybe even separate/different muscles are affected in other ways?

5. How common is it to "miss" ALS on EMG the first time around because of considerations like these?  and because of this 'focality'?

6. How does one test strength of isolated quad muscles? Is this even possible?

7. Is it important to request R vastus lateralis (atrophied? muscle) and hand intrinsic, maybe even tongue, EMG at this point?  Would it be reasonable/OK to wait 3 months for a re-evaluation or second opinion?

I have been reassured by the specialist and others that "ALS doesn't present this way". But the tongue fascics, the back fascics, the changing nature of them, all are driving me nuts.  I just can't seem to shake this nagging feeling that we could be missing something important, particularly based on review of the literature. It seems that everyone with true disease presents so "late" that there is little that can be done to help, and even the diagnostic criteria are predicated on a certain level of disease progress.  Not that there would be anything to do at this stage anyway, necessarily, other than to wait and reassess, but at least I could start to organize my life, prepare, etc, and make myself available to clinical trials.

Thank you so much for your kind help.  These threads are a wonderful resource for folks in similar positions, and I think I can speak for everyone in expressing tremendous gratitude.

-worriedinaz08
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4 Comments Post a Comment
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Avatar_f_tn
Wow - you do have a lot that seems to be ailing you.  

I am no medical professional - just a patient who has suffered, like many out there, to find the right dr and the right diagnosis.  

If you go back into the history of this forum - there were comments made by a few patients (diagnosed with ALS) that wrote in and clearly stipulated, my exact sentiments of late, ALS rapidly progresses.  Now I don't know if this is because it takes the drs so long to diagnose the illness, that when it finally hits you and you're given the 5 years to live prognosis, you now have ALS???  All I know is that when it is confirmed - one must be in a pretty bad shape.  

Just referring to your question on atrophy affecting muscles where there are no fascics - from my experience with my neurologist - this can't happen.  It is usually the fascics that cause the muscles to die off, bringing on the atrophy.  However, in your instance, if muscle is dying off where you have prominent fascics, then it would only be a matter of time before muslces closest to those might be affected as well, causing further atrophy, but there has to be fascics first.

At this stage, I would agree that you wait and reassess your symptoms.  In my books EMG's (although, they can detect muscle weakness/degeneration are not fool proof - these are usually very far and inbetween and it is, as I now believe, the very late stages (if I can call it this) that the EMG is usually successful).  Even though I have read, there is no 'late' stage for ALS.  Not even the best Neuros out there are sure - there are just too many muscle and neurological conditions - I think if I were in that profession, I would also just stick to diagnosing all my patients with anxiety and depression (only kidding!).  Unfortunately, this doesn't leave the patient in a better state of mind and body.

However, I do hope there will be others (with more experience/insight) that will help you find the answers you need.

Take care and just know you are never alone on this journey.

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Avatar_n_tn
was wondering if u got any answers. i myself and dealing with these types of issues. 37 yrs old body wide twitches along with possibly atrophy . emg 30 days after symptoms started. came back clean, but that was in mid may and almost two months later i still have symptoms. doctors told me that 30 days in for a test is ok cause ure body starts to break down before symptoms actually appear. more than one doc told me that. have a follow up in a couple weaks. the nuero said that bfs could be cauasing my cramping and general muscle weakness. i started out with body wide twitches and sore legs and than hit my arm all in one week. i was told also it supposed to hit one muscle and than really damage it before it moves somewhere else. Sometimes my hands get stiff but then go away. than come back three days later and get stiff again. doctor said if my hands got stiff every few days for over two months that it would cont to get progressively worse. I havent seen that. I can still lift up my 30 pd daughter in my left arm. its very strange and scary. I think i see atrophy in about 6 body parts already. can that be possible in only a couple months.
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Avatar_m_tn
The time line might be best but I'm going to give the current.  I havee been diagnosed as Fibro since 2000,  In march of 06 I got a steady and continuous flow of pain from my feet.  Feels like I'm walking on bags of large rocks. pins and needles and burning when I am at rest.  An EMG $ NCT show no neuropathy. (??) .
I have told them for years I cannot hold my head on my shoulders.  They said I was depressed, try cymbalta.  I compromised.  I requested a cervical MRI, if it was not remarkable I would take the Cymbalta..
My name is Mark, I'm male, 40, and married
The films showd spinal stenosis, ruptured ,dried up and crumpbling disc  at every level from c2 -t1.  C6-C7 being the worst ,effacing the cord via a central protrusion which was removed and fused in Jan 07.

I busrt into bilateral carpal tunnel syndrom (syndrome) out of no where. I were spints and all goes a little better.  Then I start getting twitches at nap time that keep me awake so I asked for muscle relaxers.  "Oh no" he says.  We can't just throw pills at everything, twitching is not right and needs investigated.  The twitches are sigular however Wide spread.  Some times I may get an extened twitch for an  hour or more but usually get sporatic snaps in every part of my body (avg. 8 per hour). When checked I was diagnosed w/ Double Crush syndrom (syndrome) and given a Cervical Epidural.today. (everything went well)
To top it off ,I am having major muscle weakness walking or standing or holding the phone.  I get muscle cramps feeding myself. I had a bought once where I could not breath when walking home last month.  I had to stop and work hard to get enough air into my lungs to carry me home.  My cough is becoming soft also.  I use a CPAP due to Stopping breathing in my sleep.  The wife says I twitch all night long.  Some violent, causing bruises on her.

I'm worndering if the symptoms can all be contributed towards the multiple issues or if the multyple issue point to one thing?
Will a Cervical Epduril calm ALS or is it a front line defence.

I have been using wrong words and being hard pressed to find my vocabulary.  The wife commented I an always droppinf things.

I have got nothing but time so I guess I will soon find out.  
I'm putting a lot of focues on benifits from the CE.

Thanks for letting me post!

Sagemark



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Avatar_n_tn
how is your condition? has it been confirmed. i am not much of an expert but i have looked for some ALS clinical trials here . You may want to look
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