Mayo is Stumped - please help

[Bubtub]

After lurking here for some time, I have finally decided to post my story and see if I can get anymore opinions and/or needed support. Until now I have not posted as I never wanted to be perceived as one of those who is just sort of letting hypochondria run away with them if you know what I mean. In any case, here are the important highlights of my story. I am a 41 year old professional engaged white male.

In early 2005 I started to notice a burning sensation in my left quadracep at the medial insertion point just above the knee. I also had noticed some slight atrophy at this point as well as slight pes cavus in the left foot. I had a similar "grooved channel" of wasting between the ring and pinky fingers on my right hand as well as twitching and burning sensation on the "grip" muscle between the thumb and forefinger of the same hand. As with the left leg, the hand just didn't feel right. It feels like it doesn't quite work right and has an electric current running through it. There is a visible essential tremor but motor strength is completely preserved.
There was a feeling of it not quite working right and an essential tremor which feels like an electric current. This was felt by the neuro as well. I also had fasciculations mostly in the legs and feet on both sides which was aggrivated by exercise. Fasics in the right hand are rarely seen despite the wasted muscle but widespread in both legs although not constant. To simply this period suffice it to say that I had a normal neuro exam, clean NCV, clean EMG, clean MRI at this time. I was officially diagnosed with fibromyalgia in the spring of 2005.

I lived with it for some time and finally decided to have another crack at figuring this out just recently. The atrophy in the left leg has progressed but is still confined to the vastus medialis just above the knee. It is VERY visibly scooped out now, but the motor strength is still preserved. This is a very important piece of information. My most recent neuro exam shows that dispite the wasting, the leg and foot have 100% motor strength. To be honest, I am really starting to become aware of the wasting and although not effecting motor strength, it just doesn't work right because there is less muscle, but the first repetition control is there. Same goes for the right hand. Less muscle but 100% grip strength, etc.Neuro did finger tests, trying to pull them apart, etc. and I pass with flying colors. Still hyper-reflexive mostly in the legs and slightly assymetric favoring the left where the atrophy is. Still have the migratory fasics, worse with exercise. I can still walk 4 miles a day. Have more and more fatigue lately, but no tripping or marked weakness. There is just less muscle. No Babisski. No clonus

So despite having another normal neuro exam, he decided to refer me to Mayo. I went and had another postive neuro exam - same result. He sees the wasting and fasics and doesn't know what to think because there is no marked weakness. I had another EMG which was super clean. Not even a hint of anything. They did the spine too. Since then the tremor has gotten worse and spread to the lips and a little in the tongue though very slight. I have also developed dysphagia, but not in the mouth. Tongue strength is great. The swallowing difficulty is only solid food and never liquid and obvoiusly at the esophageal junction. I feel tense all the time in terms of the muscles all over. So even Mayo couldn't make a diagnosis. All blood work is perfect. No elevated CK ruling out Inflamatory Myopathies. NCV normal ruling out MS and the like.

So I would be interested to hear what you all think. Are they missing something? And please don't say they can't because they are Mayo please. The bottom line is I have all the MND symptoms with no weakness. But the atrophy and reflex issues can't be denied. Any ideas?

Thanks in advance for your help and feel free to ask any more questions.

Best,

BT

 

[wright]

The good news is that your EMG's are not showing active denervation, which points away from ALS. I would be interested in what you motor unit potentials (MUP's) were in the atrophied muscles, though. Do you have the raw data from your EMG's?

Since you don't have any muscle weakness and you still have atrophy, it could be a non-progressive myopathy. The non-progressive nature of the disease could explain why your creatine kinase levels were not elevated. They certainly would have been while your muscles were wasting but then as soon as that stopped (again, because it is non-progressive), the creatine kinase levels would eventually be normal again.

All of that is pure speculation, though. A muscle biopsy of the affected muscles would be the next logical step in determining the nature of your condition.

Some additional things and questions

The upper part of the esophagus is lined with skeletal muscle so your condition could be related. Is your burning sensation constant or has it disappeared? Is the electric current feeling constant? Has the essential tremor gotten worse?

 

[Bubtub]

Thanks Wright. Although the wasting is progressing and the CK has never elevated. They are leaning toward some sort of autoimmune condition. I was originally hypothyroid, then became hyperthyroid due to synthroid overreplacement around the time the symptoms started almost 4 years ago. My latest blood work showed TSH normal but free T4 still slightly high. The speculation with all doctors is somehow my body is hyper sensitive to T4 replacement and despite relatively normal labs by body thinks it is thyrotoxic. Of course there is no way to prove this theory other than to taper off Synthroid and see if symptoms subside.

It seems too slow a progression for MMD and odd that it has stayed in two places too no? Certainly doesn't present like ALS no? Weakness is the key from what I hear and if denervation were occuring it would precede atrophy. They also note it odd that the wasting is on one end of each muscle and not an overall shrinking. It would seem in a nerve problem the whole mucscle would pretty much shrink uniformly as opposed to sort of having an end ""chewed" off which is what mine look like. If you look at my whole left leg in comparison to the right it will look totally the same front and back except the medial side just above the knee and then you would be like, "wow" look at that. Strange. Any thoughts on this?

 

[wright]

Do you have Hashimoto's disease? That is autoimmune in nature . . . and if they are leaning towards something autoimmune . . . many times people with autoimmune conditions develop other autoimmune conditions. Given that your TSH level is normal now (TSH would be low if T3 and T4 were too elevated), they are probably close to normalizing your T3 and T4 levels.

Progression is too variable to say someone is "too slow" for it not to be ALS. However, you have no active denervation and no weakness, so you simply do not have ALS. Your other symptoms that you were having could certainly point to thyroid problems (including muscle twitches) so time will tell.

A muscle biopsy sure couldn't hurt. Well, it might hurt, but the pain will go away and the data from it might shed some light. :smile:

As far as your muscle atrophy and lack of weakness

Yes, denervation would be followed by muscle weakness and atrophy would then be evident. The atrophy in a single muscle can present as something focal or uniform, depending on how the denervation occured. The innervation to muscle fibers is scattered . . . and if the denervation is not progressive . . . could very well atrophy just parts of a muscle. In my case for example, I had many muscles atrophy but only parts of some of my muscles atrophied (my condition is not progressive by the way).

 

[Bubtub]

Well but I'm still not clear. I was told that even any previous nerve problem would show on an EMG and it doesn't just go away. So obviously, after all this time to have a visibly atrophied muscle but to have no sign of any nerve involvement suggests that the atrophy has no nerve involment and is being caused by something else. So I guess atrophy from say, an autoimmune attck would be one such way. Correct?

We also can't assume that the fasics have anything to do with the muscle loss. Those occured with thyroid even before and are coonsistent with fibromyalgia as well. Same goes for the hyperreflexia. I want to say I was always at least midly so, and 3+ with no clonus I guess is no cause for alarm...

Also I would think the burning pain at the atrophic sites as well as the tremor would further suggest something other than MMD - especially since there is still no marked weakness at any ofthe sites after 4 years?

 

[wright]

Yes, if you would have denervated some time ago and then reinnervated, that would always show on the EMG in the form of large MUP's. That is why I asked about the MUP's in my original post to you. The only way it wouldn't show much, is if you completely denervated an entire muscle (completely severing a nerve, for example) and then reinnervated the muscle fibers with a newly grown nerve. The motor units would basically be normal. That is not at all what has happened to you. Did they needle the affected muscles?

You are absolutely correct about the fasics: they could be a complete red herring, unrelated to your muscle atrophy. Your thyroid issues would certainly be a candidate.

Burning pain is rare with MND, so much so that the presence of burning pain directs neuro's to another diagnosis.

It appears as if you are tying to get more reassuring words that you don't have ALS. You have a clean EMG with no weakness. Your reflexes have always been 3+ (2 is considered normal) and symmetric, so they mean very little toward your diagnosis. None of that points to ALS at all.