Where to from here?

[rom623]

I have noticed there are a few people posting now that seem to have similar issues to what I am having. Does anyone have ideas for any types of specialists that might make sense to pursue - rheumatology, infectious disease, back to neuros, etc. - given the following?

I have been told by 5 neuros, including the top 2 ALS doctors in GA, that there is NOTHING wrong with me after exams, MRIs, blood tests, 2 single-side and 1 partial EMG/NCV. It's all in my "head". That's great! But still, I am dealing with a progression where muscles all over my body seem increasingly floppy and weak, along with fascics and thinning (like the back of the shoulder muscles gone, shins now very bony, etc.). If the neuros throw you out, where do you go next? (BTW the psychiatrist sees nothing wrong on his end either, after a year of visits.) I am a male in his forties.

Here is the progression:

Early 2007: feet and lower legs were strangely still upon waking - relaxed much more than normal. Then I started waking up with hands strangely still and stiff. Then, I got the first fasciculations - in the genitalia (!) - try Googling that one :lol:

Late 2007: started taking cholesterol drugs (statins) - after 2 weeks, stiffness rapidly spread up arms and legs over a few days, and then muscles became tight all over from head to toe, like a giant rubber band. I quit taking the drugs. I have since read bad things about statins and nerves / muscles.

December 2007: Weakness started rapidly attacking all over - stomach valve to the esophagus, causing acid to pour up at night; fingers; arms; shoulders; swallowing; diaphragm. Basically, full-body muscle floppiness/weakness progression. Fasciculations and occasional muscle jerking started. Fascics seem to stay in one area for a few days, followed by weakness in that area.

Since then: sleep/good attitude returned, and I am able to function, but more and more, lifting arms, chewing, climbing, etc. seem harder. Not a full linear progression, more like - very noticeable dip, followed by improvement but not back to original levels. For example, some days the head feels like a bowling ball, then some days not noticeable. But I can feel the floppiness creeping further each day. Sleep/stress seem to affect severity. Also, joints want to become stiff and inflexible(neck, shoulders, waist, toes, etc.) unless routinely stretched.

At least some of this sounded like a number of undiagnosed posters' experiences. Does anyone have opinions on what next steps might make sense?

Thank you

 

[planningguy]

Rom623,

I wish I could provide you with some answers, but I just wanted to let you know that many of your symptoms are similiar to mine (particularly the twitching, morning stiffness, reflux, and thinning around joints, shins, progressive feelings of weakness, etc). In fact I hate to sleep because of how stiff I am in the morning when I wake up.

Like you I've see a number of neuros (1 very good local, 1 neuromuscular specialist at the University of Utah, and 1 at the Mayo-Rochester). I've had 3 NCS/EMGs, 2 swallow assessments, blood tests, MRI's, etc...

Thankfully, I haven't been told its in my head, but like you I don't have an answer. Some of the possibilities I have heard to date include myopathy, virus/bug, and auto-immune response. The only really clear thing I know is that I have pernicious anemia (chronic B-12 deficiency caused by lack of intrinsic factor) and I take monthly B-12 shots. There is a group of us here on the forums with similiar undiagnosed symptoms who exchange notes, and check up on each other.

A couple of quick questions:

1. I imagine that your NCS/EMG's were "normal"

2. Do you have any problems with your eyes feeling "stiff?"

3. Are your reflexes also normal?

4. Do you have sensory symptoms: flushed feeling, tingling, like things are crawling on you, buzzing, vibration, etc?

Welcome to the forum. Sorry you are here, and I imagine at this point you just want your life back. My current mantra is healthy living and gentle excercise. Stress certainly exacerbates what's going on with me.

Best wishes,

Robert

 

[hopingforthebest]

Life is short please listen to your doctors

Dear Robert

I can only speak for my husband and myself; but we would have LOVED to have heard it is not ALS!

When I tell you we still would LOVE to have a doctor say, guess what "made an error it is not ALS"

We live each day and are not defined by this stinking disease.

There is no way my husband would even search on this forum. I do it all!

Live your life and stop thinking ALS PLEASE!

 

[planningguy]

Hopingforthebest,

I'm not exactly sure what you read in my post or in others I have written recently, but I'm sorry if I gave the impression that I was "hunting" for ALS. The fact is I really do believe the doctors I have seen, and I don't think I have ALS. Like many other people I "googled" twitching and fatigue and found myself here. It's been a wealth of information, and I've enjoyed support from many good people here. I always try to be very clear in my posts that I neither have ALS, nor is it suspected.

I responded to this post because rom623 symptoms are very similar to mine (in fact eerily similar). Unless I misunderstood, I thought he was saying that he had been cleared of ALS, but still had troubling symptoms he was hoping to find answers to. He noted that he seemed to have things in common with other undiagnosed folks, and was wondering what was the best course of action. I was asking clarifying questions to see if he had a couple of other findings and symptoms I have. If he ever does find an answer, it might help me or other undiagnosed folks on the forum.

I guess I am just confused by your response. When I say undiagnosed, I do not mean "undiagnosed with ALS" I mean "undiagnosed with anything." Sincerely, if I have said or done anything that indicates otherwise, I apologize.

Best wishes,

Robert

 

[rom623]

Robert, indeed I wonder about autoimmune and other things, but have had poor results with doctors so far, other than getting to ALS specialists. Your story was one of the ones I thought had some similarities.

1. I imagine that your NCS/EMG's were "normal"

Indeed they were, to the point that all the neuros involved immediately went from open-minded evaluation to "it's in your head... you are normal".

2. Do you have any problems with your eyes feeling "stiff?"

I find that it is harder to shift them back and forth, as if those muscles are weaker as well. Early on, those muscles had some vibration feelings, as if they were twitching. Not sure if that is the same as what you are experiencing.

3. Are your reflexes also normal?

The opinions have been mixed between hyper and normal, but mostly normal and not causing anyone any alarm.

4. Do you have sensory symptoms: flushed feeling, tingling, like things are crawling on you, buzzing, vibration, etc?

I think due to the over-relaxed muscles, the natural circulation help that working muscles normally provide is reduced, so extremities fall asleep or have poor circulation more often. This one condition (floppy, over-relaxed muscles) would probably explain most of the secondary symptoms like joint stiffness, circulatory tingling, etc. I also noticed yesterday a vibration in some leg bones, as if someone stuck a tuning fork on them.

I am wondering if auto-immune or virus conditions can be somehow tested for. This gets very noticeably worse during low-sleep or high stress periods, like one might expect with something that requires body immunity/resistance to fight. Not sure where to turn for that. Maybe a rhematologist should be next.

Thank you

 

[planningguy]

rom623,

I'm not sure what blood tests you have had, but a rheumatologist might have some insight. The rheum I saw did not repeat any testing and just did a clinic exam looking for evidence of swelling, which ironically seems to be the opposite of what is going on around my joints.

I am also really interested by your description of the muscles feeling "over relaxed." When I am not moving (resting, laying down for the night) that is exactly how my muscles feel. The sensation is almost like when I was on a muscle relaxant for a couple of days after my car accident.

The eye symptoms and muscle feelings (combined with the dr visits and findings) are when I really started to move away from thinking it was ALS. I had never heard anyone with ALS describe those type of symptoms or feelings. Did any of your neuros give you any options at all to try with other specialists? I am really curious about your case because even down to the way it progressed (stiff neck, etc) it is very very similiar.

Take care,

Robert

 

[rom623]

Robert,
Thanks for the feedback. In the early months of this over a year ago, the first ALS specialist did nothing other than get the info from the first neuro (a former student of his), do an exam, and proclaim it to be psychological. Later, the 2nd ALS specialist that I saw did another EMG/NCV, and ordered a couple of blood tests, including one for MG (which over the past year+ has been negative 2x) . I saw somewhere on this forum though that MG tests can be negative and you might still have it. However, MG supposedly does not cause fasciculations. That seems to be the case with all the "mimics" I have come across - some symptom or another is NOT a part of it. I am leaning toward going to a rheumatologist next. In the early 4 months (late 2007 - early 2008) I had many, many blood tests, all of which were negative.

I am not sure if "too relaxed muscles" is the same as having "hypotonia" - I hope not. I have noticed strangely that sometimes this feeling is worse than other times. At some point this could lead to looking at mitochondrial issues, I guess, but it appears that something would have to get to the point of being clinically obvious. As you may have found, it's not enough to know that topline strength, parts of muscles, etc. are now missing - it has to get so bad that it's clinically obvious.

Did you ever take cholesterol medicine? If not for that, I am convinced most of this would not be happening, although the strange relaxation was starting in hands and legs before it spread rapidly while on the medicine.

 

[CB1977]

FYI- I have read that cholesterol meds can deplete your CQ-10. If your CQ-10 gets depleted, I have read that your body can not naturally replace this (from food intake and such). That in turn causes your cells to get bombarded by free radicals. It might be something to look into or bring up with your doc. I know you can get prescribed CQ-10 supplements, they also sell these at health food stores. I am not a DR or medical professional, this is just something I have come across while searching for answers to my own issues. Good Luck to you, keep us posted on any changes.

CB1977

 

[BethU]

CB1977 ... not all cholesterol meds affect Q10, as I understand it. Only statins. But reputable studies have shown that statins make ALS symptoms worse. (There is a link to the Canadian study that established this on the forum.)

Other cholesterol meds are not implicated (like Questran, which does not enter the blood stream but stays in the digestive track, and Niacin, which increases the good cholesterol, among others). I have read many opinions online that higher cholesterol and other blood lipids are good for ALS ... but I think these are just guesses. Don't know if any studies have proved it.


Speechless in LA

 

[planningguy]

Rom623,

I will let other's answer the statin drug question as it is something I know next to nothing about. I have never taken them. My GP has actually noted that my cholesterol is a bit low for someone of my physique and reported diet. I have taken some some heavy duty antibiotics (levaquin and vancomycin in Jan/Feb of 07) for a blood infection.

I wouldn't shut the door on something because it doesn't typically present with muscle twitching. Widespread twitching is common enough that it could be a secondary condition. I've even read about people with MG who experienced twitching even though it is not a "classic" or presenting symptom.

Unfortunately, I don't know very much about hypotonia either, but I don't think what you describe is it. From what I understand hypotonia is the inability of muscle to contract or maintain its contracted state for extended periods of time. It would seem that with progressive hypotonia, mobility would be effected pretty quickly because the muscle could not stay rigid for support. I also don't think hypotonia, "comes and goes."

Keep us posted, and take care,

Robert

 

[rom623]

I recently saw that Canadian study. It came out after I had been to all but one neuro appt. I reacted to the first statin I took like the study described. I reacted to the second one with the rapid deterioration as described earlier. I think that really has thrown off all the doctors. They have no idea whatsoever to make of it.

 

[Sammantha]

Unfortunatley it sounds like it is going to have to get really bad before they can figure it out. I have had some of what you describe and much more. I even had an abnormal EMG three years ago. I have brisk reflexes and neuro's kept looking for ALS like syndrome. My breathing became affected and then they found a thymoma which usually occurs in Myasthenia Gravis.. I am just trying to say that we are here for you and i know what its like to have these scary things happen with no help or guidance. When my breathing became affected that was the scariest for me, and i had noone to turn to. Before they got my Pulmonary results they would tell me excersize more, and i would say when i do it gets worse and i wanted to scream at them, needless to say they dont tell me to excersize more, now! I have been dealing with no diagnosis for four years.

 

[keane]

I saw this post and really wanted to reply, but I'm not sure if my thoughts are biased.

About ten years ago I lived in Georgia when I began to notice that my thighs were beginning to weaken. the progression to other areas was like a creeping feeling that progressed day by day. My other symptoms were not at all like yours, however.

I went to a respected neuro in my area, but was ultimately referred to the Medical College of Georgia, where I was seen by one of the most respected nuromuscular specialists. His behavior was so gruff and hasty that he especially offended my wife. He basically said that he thought nothing was wrong. EMGs and nerve conduction were normal. He ordered a biopsy, which was performed on my bicep (even though my thighs were weak). As far as I know, no special stains were performed. I received a return call from another doctor later who said the biopsy had some non-specific structural abnormalities.

No follow up was performed for almost 10 years, until I moved to the midwest. I began experimenting with a low carb, high protein diet, plus vitamin E and others, which really helped.

About 6 months ago, the weakness returned with a vengeance. This time it even affected my arms, and finally partial diaphragm paralysis.

This time, I reluctantly agreed to go to the Mayo clinic. The difference in how I was treated was astounding. I was diagnosed with a rare disease called Pompe disease, or acid maltase deficiency because they not only performed a biopsy (with non-specific structural changes), they performed numerous special stains and cultures that identified a deficiency of alpha glucosidase.

Although is is discouraging to know that I will probably not live a full lifespan, because the muscle damage has progressed to a non-reversable stage and is also affecting swallowing and digestive muscles, my treatment at the Mayo clinic compared to the doctors in Georgia was one of the high points.

My suggestion: discuss with your primary care physician and see if he/she would agree in seeking a 2nd opinion at another multi-disciplinary hospital (I believe the Mayo Clinic has a branch in Jacksonville)

 

[rom623]

Keane,
Thanks, I may have to check back to Emory's mito/genetics department (due to insurance concerns, it can't be Mayo or Hopkins). I have wondered about this disease, as lots of things that I did not mention here might line up. I had thought that neuros would be able to refer into this kind of thing but when the big cheese neuros say 'it's in your head" that really makes it hard to move forward.

I was wondering:
Did you weakness ebb and flow in short time periods, such as a few days when under stress?
Do you quickly get muscle "burn" when doing moderate physical activity (like tightening a screw or curling arms)?
Do your muscles seem over-relaxed when you let go of the tension in them?


Thank you

 

[CB1977]

I think Keane makes a great point. Many people on this website say things like "I am to afraid to go to the Dr. and why should I because if it is ALS they can’t do anything for me". There are many diseases out there that can be stopped and treated once diagnosed. Sometimes though, the damage is irreversible so you will have to live with the damage that was done. This means that the "wait and see what happens approach" by the Dr. or the "I am not going to go to the Dr. because I think I have ALS and there is nothing they can do" could be a bad approach. If you are sick, if you feel your sick, do EVERYTHING in your power to find the answer. Don’t give up, don’t take no for an answer. I was told in the beginning of my ordeal that it was "the stress of my job" that was causing my issues and given anxiety meds. Over a year later I have physical proof of an underlying issue but I still have to take control when I go to the neuro. Push your Dr. to do everythign he/she can to find the awnser and when they do give you an awnser. Like any profession, some Dr's take pride in their work and some just take the path of least resistance. As a patient, you need to take control and keep it.