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Undiagnosed rare problems.

Brain & Nervous System | Last Active: Mar 20, 2021 | Replies (30)

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Desperate and undiagnosed

Back in Oct 2013 I started experiencing muscle twitching in my left leg. This went on for a few weeks until I went to my Dr. From there the journey began getting Mari's of the back, brain, along with all kinds of blood work and EMG's. All came back normal. My muscles started to atrophy. I researched everything that could have caused this. Even genetics and tests for Amyloidosis. Everything normal.

When you know there's something wrong and you start to see yourself lose muscle mass for no reason at all, you cannot accept an answer of - everything is fine, just go on with your life.

I had a muscle biopsy done that did show mild and chronic denervation, but no one could determine why. I know have brain fog and difficulty with some pronunciation. I went to Mayo in Jacksonville FL and in Minnesota trying to get a workup that would show something. I have not been successful. No one can figure anything out. I applied for the undiagnosed disease network, but as you can imaging, was declined. I have not given up, but feel as though everyone is missing something that when found out will almost be like a no brained for the smart Docs at Mayo.

I did purchase some medicine over the internet prior to my symptoms and feel as though I may have ingested poison. I still have a few tablets that I kept, just in case I can ever get someone at the Mayo lab to look at. Who knows, mayne I'll get lucky. If they do find out it's poison, then maybe I can start some sort of chelation treatment.

I guess I am reaching out here in hope that maybe someone else has experienced muscle weakness and atrophy, had a clear EMG'S, and maybe got there condition figured out and treated. Please Mayo. Help me!

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Replies to "Desperate and undiagnosed Back in Oct 2013 I started experiencing muscle twitching in my left leg...."

@undiagnosed2013 Welcome to Mayo Clinic Connect, a place to give and get support.

It sounds like you are seeking proper medical care with no answers yet. Having muscle atrophy with no known cause must be terrifying.

You'll notice that I moved your question to a previous discussion. I did this so you could connect with members like @kengroninga @rivergirl8243 @bustrbrwn22 @lineage @jenniferhunter @jakedduck1 @wisco50 that have discussed this topic before.

May I ask if you have any next steps planned?

@undiagnosed2013 Seems to me that you, like me and millions of others around the world, especially in the USA, are a victim of a long-lived form of hatefulness, that of "If I cannot diagnose your problem, you do not deserve to live." I have lost two careers, nearly my sanity, and nearly my family as a result of this cycle of hatred. Now, I don't have an easy answer for you, but when my legs started twitching like that, and then turned black around the lower calf to the ankle, I was in real pain. Mine turned out to be Gelsolin, a form of Amyloidosis. But I had already started treating my burning facial purpura with Gold Bond Psoriasis Relief Cream with Aspirin, and with Noxema, trading off every few hours. It has worked like a charm. So I thought, "What the Heck can I lose?" So I started treating my legs with that, as well. Now my legs no longer hurt and twitch, but they still have the black-purple bands of purpura around them, from the calves to the ankles. And I still get the purpura on my toes and around my eyes, and the rest of the symptoms are still there. Now, if I were in your shoes, I would go to the human phenotype ontology (www.hpo.org/ and enter your best guess or our symptoms, and see what they come up with. And ask your doc to do the same with https://www.omim.org/entry/ and put in something like "twitching leg" or such. Then follow the trail. Or, have a good genecist help you find the problem. There are many such sights, but a start with some place like Ambry or Sequencing, or Nebula would be helpful. Sad that you will have to take control for yourself in this matter, but it will be worth it just to know how to do things like this. Slowly but surely, we will move modern medical practice to the 21st century.