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CB1977 ... I haven't been aware of people saying "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". , but you make a very good point for anyone who feels that way .... that there are many mimic conditions that can be treated, so it's best to find out for sure what's going on.

I'd like to add that if someone has ALS, there are MANY things that can be done to treat symptoms, extend life and improve the quality of life. Swallowing evaluations and guidance, speech therapy, nutrition advice, assistance devices. Most PALS are not sitting around waiting to die. We are figuring out how to keep on keeping on, and most of us are keeping on pretty damn well.
 
I was wondering:
Did you weakness ebb and flow in short time periods, such as a few days when under stress? I have good days and bad, but since I work in a stressful job, I notice that the weakness and fatigue build daily through the week, then I try to rest on weekends

Do you quickly get muscle "burn" when doing moderate physical activity (like tightening a screw or curling arms)? I worked out heavily for years so I do not notice a real burn as much as a feeling of the muscle becoming locked into a contracted mode. After just a short walk, I develop a swaying gait and trip easily

Do your muscles seem over-relaxed when you let go of the tension in them? The neurologist noticed a delay between releasing my grip and the relaxation of the muscles.

Since I worked our for years as a younger adult, I should mention that I was told repeatedly that I was not at all typical for acid maltase deficiency. Lately, however, the similarities I share with others are a weakness that is close to being debilitating in the upper legs, hips, and lower back. The lower back weakness makes even simple chores extremely painful.

The other common feature is the slow, progressive paralysis of breathing muscles. A doctor noticed long ago that my chest barely expands when I breathe, but we (incorrectly) assumed this was related to rib fusion in the degenerative joint diesease I have. The diaphragm weakness has progressed very fast recently.

Since I am newly diagnosed, we are beginning to explore the availability of the enzyme replacement therapy, but I believe it will be entirely too expensive for my insurance to approve.

I am hesitant to offer an opinion, because I am not medically trained, but your symptoms seem to share similarities to metabolic myopathies. I was very impressed when I took my child to Emory University and agree that you should consider seeking an opinion there. In my recent exposure to medical teaching hiospitals, I told my self that I would not stop until I found that I found a doctor that took me seriously, and one I trusted. Then, I promised myself that I would trust his/her opinion, even if they told me that they would just wat to watch over time
 
Thanks, Keane. I also get the muscles locking more in contracted mode - for example, gripping a drill hard for a couple of minutes, then letting go. The hand feels like it is still trying to hold the drill and I have to stretch it out.

I think the "over-relaxed" situation is more related to when I try to "release and let go" of all tension. For example, if I hold my arm up, then "let go" as if to relax, the arm will fall limp and crash down like a 20 pound blob of flesh, whereas before I would have a sense of underlying tension in the muscles that prevents such limpness. I can feel newer levels of limpness creeping up the arms day after day. Or if I talk, I sometimes miss sounding consonants because the same amount of force that was programmed in "muscle memory" no longer is sufficient to move the facial muscles to sound the same sound. So instead of "that's all" it might come out "at's all". Originally, I thought this was slurred speech so of course it caused even more fear of MND.

After listening to your and other stories, I now believe (and hope) that it is not ALS, after a long journey of doubt (including foolishly arguing with doctors). Systemic, progressive muscle weakness + fascics can cause many related symptoms that make us look at ALS, no matter what is causing the weakness.

Also, I am finding more stories of people having underlying neuro/myopathic issues that are then blown up or unmasked by statins. In fact, the side-effects text for Simvastatin specifically mentions a case of Pompe disease apparently unmasked in a previously OK person. I hope to find and get referred to someone who can tackle the full range of myopathic possibilities (including lysosomal storage disorders such as Pompe), because I do believe that something is causing slow progressive muscle death or malfunction. Looks like Emory requires another doctor to say you need to go there before they let you in, so that is the next step.
 
After 10 years of taking lipitor, my company began a program where I receive free refills for most generic drugs. Being very frugal by nature, I discussed with my doctor and changed to simvastin. It was shortly after this that my symptoms for adult Pompe/acid maltase deficiency went into overdrive. All of my doctors thought it was not related.

Perhaps if you discuss with your GP that you'd like to just put your fears behind you, he/she would give a referral to Emory. Best of luck.
 
Has any of the undiagnosed looked into the mitochondrial diseases route yet after getting nothing from neuros?

Some of what they can apparently cause include
- twitching
- muscle jerks
- progressive weakness and muscle thinning
- GERD
- tingling extremities
- rapid deterioration after exposure to mito stressors like certain drugs (statins)

I had a dramatic exacerbation after stopping the supplements and trying a short fast, which has clued me into something related to metabolism.
 
Rom623,

Sorry to hear that you went through a rough spell. I think a number of us have looked into mito diseases at one point or another. Since mito diseases are tied to subtle genetic defects, there are a large number of variations, and they can effect many different parts of the body causing many of the symptoms on your list (I say "many" and not "all" because it has been a while since I talked to my neuro about it, and done any reading on the subject).

Mito diseases are usually uncovered through genetic testing (blood tests sent to specialized labs), or in certain cases, through muscle biopsy. My local neuro ordered a pretty extensive series of tests through Athena labs. He thought mito because I shared problems of hearing loss with my mother. The labs ulitmately came back negative.

This might be something worth exploring. Just a note of caution, while working through the possibilities it's probably best to eat a balanced diet with reasonable vitamin supplimentation. From what very limited understanding I have, mito diseases can react pretty severely to diet shifts. Your "experiment" aside, if you did end up having a mito disease, fine tuning your diet is something you'd want to work out with a specialist.

Best of luck,

Robert
 
Robert,
I was reading where you hate to sleep because waking up in the moring you are all stiff and sore. I am the same way especially my neck. Did you ever end up going to the Mayo clinic. If so, did it give you any clues to what is going on?
 
I am looking into this after having progressive symptoms for over 2 years and having 4 clean EMG's over the last 18 months. I have been sent to an endocrinologist. Hopefully this will not be a dead end. I have most of the symptoms you mentioned. Good luck to you, dont give up the search to find out what is causing this.

CB
 
Kansastom,

Sorry not to respond to your question sooner. Had a nice weekend away from the computer.

My local neuro had homed in on mito disease, but the genetic testing came back clean. The Mayo performed another NCS and EMG, an endoscopy and repeated bloodwork. They decided not to repeat the biopsy, but to use the slide from the U of Utah. The Mayo neuro said there was a little bit of debate about the muscle slide, but that ultimately, the lab believed what they were seeing were artifcacts from the slide preparation at U of U.

The Mayo neuro opted for a wait and see approach, which was similiar to my local neuro. I'm just visiting with my local neuro every 6 months or so and going from there. So, unfortunately, no answers for the time being.

Best wishes,

Robert
 
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