My symptoms

[evo34]

39yo male, formerly reasonably athletic (good skier). Not a hypochondriac or typically an anxious person. Went to a doctor maybe 5 times total for minor issues from 2000-2008. Onset of first symptoms (fatigue/weakness) was early 2009. No diagnosis of anything at this point.

MRI of cervical spine and brain negative as of Feb 2011.
EMG of right side in Jan 2011 mostly normal (except right shoulder, which I believe they said was delayed -- need to get full report to check).
Tons of blood tests over the past two years, all negative.
Saw a neurologist in Feb; she was not sure what was going on. Will follow up soon. Wanted to post my situtation in case someone here with ALS expertise has any comments.


Symptoms:

Weakness that has progressed for last ~2 years, from just being unable to do athletic things to now having some walking issues. There is some degree of weakness everywhere. Right side is moderately weaker (despite being dominant side). Can no longer jog more than 100 yds. without legs failing. Walking is not easy or fast, but I can walk 5-10 blocks on most days before muscle exhaustion. Some foot scuffing, but no falls. Cannot drive very long before leg is too tired to keep on the accelerator. Poor balance when walking. Progression has been steady in the sense that I am worse at the end of every four-month period than I was at the beginning. But there has been a fair amount of variation in how bad/weak I feel month-to-month.

Arms and thighs are smaller, right side slightly more so. Calves are not smaller and are typically stiff (maybe 1/3 of the way to cramped in terms of feeling), and lower quads can be sore.

Three mos. ago, I began having trouble with fine motor coordination. E.g., using a key, buttoning/zippering, typing, writing have become more difficult. Hard to sign name the same way. Right hand seems a bit worse.

One month ago, I began to experience mild slurred speech (noted by a couple people). Excessive saliva began two weeks prior, but does not directly cause the speech issue, as when mouth is dry, I still have issues. Teeth hit randomly sometimes while speaking, which is totally new. Tongue feels enlarged, but looks the same.

Two months ago, occasional twitching began (never before a symptom). Then, two weeks ago, twitching became much more severe and common. Seems truly random in terms of timing and location. Sometimes will result in a quick limb/torso movement (jerking), while other times just a tiny muscle twitch. Probably averaging thousands per day. The onset was a few weeks after the last EMG in Jan.


Obviously, I need to follow up with a neurologist. Not expecting anyone to say "hey, that sounds just like ALS." But...figured I would see if this is a reasonably plausible onset of MND, and also if my next EMG is negative, how conclusive that would be in eliminating ALS? I.e., in a person who develops ALS, are EMGs often negative before true clinical weakness is seen, or are they usually abnormal in people with ALS before weakness has become clinical?

 

[trfogey]

When you saw the neurologist in February, did she say anything about what she found during her clinical examination? Any findings of clinical weakness or any comments about muscle tone and reflexes -- that sort of thing?

 

[evo34]

In the notes, it says reflexes were 2+ and equal. I am certainly not a reflex expert, but I know that she did not do the Babinski test. No clinical weakness noted. She did not find anything abnormal. However, this was before any significant twitching and speech issues began. I am trying to get referred to a neuromuscular specialist.

 

[trfogey]

Given the findings of your neuro (normal strength and reflexes, normal EMG, etc.) and the fact that the vast majority of your symptoms are both bilateral and popping up in a very short period of time, why are you concerned about MND? MND doesn't present or progress that way.

Second, if the weakness that you say you have in your legs were caused by MND beginning two years ago, you would likely be substantially crippled by now. 50 percent of patients diagnosed with ALS die within 28 to 32 months from the onset of the first symptoms and virtually all of the remaining fifty percent have serious disability -- one or more paralyzed limbs or inability to talk or swallow.

Your story doesn't sound like MND to me. Be patient and let the doctors do what they need to do to figure out what's wrong with you. It's usually counterproductive to use the Internet to second-guess your doctors because there is a lot of medical misinformation out there on the Internet. You appear to have come across some of that misinformation, and it's brought you here asking about a disease that there is little evidence that you might have.

Good luck to you.

 

[evo34]

Not sure your pasting a form reply is of much help here..

Not everyone is going to have textbook presentation or progression of disease -- with this disease especially. I.e., you cannot dismiss symptoms simply because they are too slow (weakness) or too quick (twitching and slurring) to make it into the narrow window you have set as the avg. ALS progression rate. The idea that the ALS disease *process* can never start before clinical weakness is seen is absurd. I asked for opinions, and you gave one, so no problem there. The issue is that the confidence with which you dismiss it is pretty unwarranted, esp. in the absence of an alternative disease process that would be much more likely to present this way than a MND.

The bottom line is that clearly something is going on. You don't go from being a fit 37-year-old man, to having trouble walking and/or carrying a grocery bag over a period of 2 years without a disease process behind it. And you don't have to wait until you fail a clinical strength test (by which point you will already be partially crippled) to be alarmed at the changes. Every one of my symptoms is gradually getting worse, whether I first noticed it 2 years ago, or 2 weeks ago -- and no matter what is going on, that it unsettling. I don't know if it is a MND, or I would not be posting here. But many of the symptoms are right on, which brings me here. I did not come across any "misinformation." And as I stated originally, a neurologist will make the diagnosis, not myself or a forum.

In the meantime, I wanted to see if this particular pattern a symptoms rang a bell with anyone here, and/or if anyone had any comments on the diagnostic accuracy of an EMG in a case like this [sub-clinical weakness with muscle twitching, coordination and speech issues].

[trfogey, you have made your view known, so no need for further reply].

 

[BarryG]

All I can say is that my bulbar onset was textbook, slurred speech followed by swallowing problems followed a couple of years later by limb problems. Even though I had no limb problems in the fall of 2007 when I was being diagnosed my EMG done on my arms and legs showed abnormalities. But that's just my story.

 

[foxa]

We same to be in the same boat. I am also 39, skier(tought in Switzerland, Whistler), 3 kids. I am really scared and have convinced myself that i have this disease. Second neurologist exam tomorrow and my first EMG a week after(Canadian system is a bit slower than the US, but its free. Get what you pay for).

Not sure why i responded to your note. Lets hope that we can keep carving out some turns and enjoying life.

All the best,

Alan

 

[laurel]

Alan our medical system isn't free. We have some of the highest taxes in the world. We pay for it.
Laurel

 

[trfogey]

evo34,

Nice set of strawmen you built there and I complement you on how efficiently you knocked them down. If I had actually said the things you are arguing against, I'd certainly feel thoroughly chastened by your response.

Just a few comments and questions concerning what you said. You can respond to them or not, as you choose, but I'm mainly putting them out there for the benefit of others who read this thread.

Not sure your pasting a form reply is of much help here..

It wasn't a form reply. You must have confused the response I gave here with other posts of mine that are scattered on the board. I do admit that some of them have form material in them.

Not everyone is going to have textbook presentation or progression of disease -- with this disease especially.

True, you might be the (very) rare exception. I hope for your sake that you're not because having this disease is not something most people want. But the overwhelming majority of people will present with the "textbook" symptoms.

I.e., you cannot dismiss symptoms simply because they are too slow (weakness) or too quick (twitching and slurring) to make it into the narrow window you have set as the avg. ALS progression rate.

Nobody's dismissing your symptoms. The order of onset, the apparent pace of progression, and your current physical condition as described by various examinations just don't paint a consistent picture and I noted that. The inconsistency is probably what has your first neuro scratching her head.

The idea that the ALS disease *process* can never start before clinical weakness is seen is absurd.

I agree. That's why I've never said that and never will. Who are you disputing with here?

I asked for opinions, and you gave one, so no problem there.

Thank you for that much (I think?).

The issue is that the confidence with which you dismiss it is pretty unwarranted, esp. in the absence of an alternative disease process that would be much more likely to present this way than a MND.

Once again, I haven't dismissed anything -- just stated an opinion that whatever is causing your problems doesn't sound like the ALS that I've experienced or read about, and I gave you the reasoning behind my opinion. A lot of people would be reassured by that. You appear to be disturbed rather than reassured so I'll keep that in mind and not attempt to reassure you any more.

The bottom line is that clearly something is going on. You don't go from being a fit 37-year-old man, to having trouble walking and/or carrying a grocery bag over a period of 2 years without a disease process behind it. And you don't have to wait until you fail a clinical strength test (by which point you will already be partially crippled) to be alarmed at the changes.

Once again, who are you disputing this with? Not me. I didn't say nothing was going on, contrary to what you seem to be implying here. I didn't say that there wasn't a disease process going on. I simply differ with you over what disease might be causing the problems. If it makes you feel better to think that you have an MND, by all means, do so.

Every one of my symptoms is gradually getting worse, whether I first noticed it 2 years ago, or 2 weeks ago -- and no matter what is going on, that it unsettling. I don't know if it is a MND, or I would not be posting here. But many of the symptoms are right on, which brings me here. I did not come across any "misinformation." And as I stated originally, a neurologist will make the diagnosis, not myself or a forum.

Which possible ALS symptoms did your first neuro (or any doctor, for that matter) confirm when she examined and tested you? If your symptoms really are "right on", as you say, the neuro would have easily confirmed some of them. Either that, or your first neuro was too incompetent to do a proper clinical exam or to interpret an EMG report properly, which, in the interest of supporting the outside chance that you are truly the exceptional case of ALS onset, I will accept as a possibility.

In the meantime, I wanted to see if this particular pattern a symptoms rang a bell with anyone here, and/or if anyone had any comments on the diagnostic accuracy of an EMG in a case like this [sub-clinical weakness with muscle twitching, coordination and speech issues].

If your thread comes to Wright's attention, you'll get the most reliable answers about EMGs. You could also search out his posts for yourself, but I doubt you'll like his typical tone when the subject of the reliability of EMGs comes up.