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Glenn1970

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DX MND
Diagnosis
06/2007
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US
State
TN
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Knoxville
Hi everybody

I was diagnosed with motor neuron disease about ten years ago, and since, I’ve been told I don’t have motor neuron disease, and I’ve also been told that I may have a neuropathy, or some form of limb girdle muscular dystrophy.

I’ll try to make this pithy, but it’s a long story, if anyone needs additional info I’ll be glad to provide what I can, ive attached three pictures of some findings in some tests I’ve taken, I have more if needed.

I’ve done a lumbar puncture, came up clean, multiple EMG’s, came up dirty, hands, shoulders, legs, and hips. I’ve had a muscle biopsy, with a picture of the results attached. I’ve had breathing tests with a picture attached, I’ve had a complete genome test, with the results attached. Yet, 15 years later I still have no difinitive diagnosis.

I have a essential tremor. I take ropinirole for that. I have sensory issues, in my arms and legs. I thankfully still have no bulbar involvement. I have a positive babinski on both sides! Kinda weird. My knees are slowly spreading apart, I think from my hip problems, I’m not sure, my knees can only get within a foot of each other, which makes sitting difficult. I can’t run or jump or stand on my heels, I can’t stand with my eyes closed.

If I walk more than I should, 15 minutes max a day, my thigh muscles will hurt so bad I won’t be able to walk for days. I fall about once a month, can’t do steps up or down, can’t button a shirt, can’t write, can’t hold a phone to my ear. I have no reflexes. I’m sure there’s more, but you get the gist.

Ok what is it, lol. My copper level runs about 40-50 which is low, my creatine kinase runs at about 400-500, which is slightly high. I have high liver enzymes, and a fatty liver and pancreas. I have a persistent dry cough, I don’t smoke, I have some slight scarring on my lungs, and have been diagnosed with ILD. Other than that, I’m ok, lol.

Anyway, if anybody has ever seen anything like this, please let me know your thoughts. Obviously I’ve taken every test known to man in the last 15 years, but who knows, maybe we missed something. Thanks again, sorry it’s so much.

Edit: I used to have muscle twitches but they don’t happen anymore, they only did it for about 7 or 8 years, I still have cramping though, I take vitamin E for those, oh yea, and I’m 48 years old, first symptom when I was 33 was in my legs, I felt like Herman Munster, all stiff, and a bit weak
 

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KarenNWendyn

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3,273
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PALS
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Hi Glenn,

I’d love to be able to tell you what’s going on, but unfortunately I can not. On this forum, all we can really do is state whether or not your symptoms and findings sound like ALS. In this case they do not, primarily because of the very long time frame of symptoms without them evolving in a way that we normally see for ALS. Also you have some sensory symptoms which is inconsistent with ALS.

It is possible that you have a multi system illness, or perhaps more than one medical issue to explain your symptoms. However, this is not the type of forum for us to make those sorts of diagnoses.

I will say that there are a few things in your story that do not make sense to me. For one, I see that one of the reports mentions reduced position and vibration sense. we can see that with peripheral neuropathy. You mentioned that you have no reflexes, also something we can see with peripheral neuropathy. However you also mentioned abnormal Babinski tests. The abnormal Babinski does not go along with a peripheral neuropathy.

The bottom line is that your findings and history do not suggest ALS, but that you have many other symptoms and findings that still need explanation. You really need to continue to follow up with a good neurologist to help you put all this together. We cannot do this for you on this forum.
 

Glenn1970

New member
Joined
Nov 1, 2017
Messages
2
Reason
DX MND
Diagnosis
06/2007
Country
US
State
TN
City
Knoxville
Hey,

Thanks for the reply, and thanks for whoever fixed my post, obviously I’m not very good at writing. Anyway, yea, I’ve went to so many neurologists, and other doctors over the past 15 years, that I’m tired. I’m tired of going to a new doctor for him to tell me that I need to take the tests over for the fourth time because their test is better only to find that they learned nothing from any of the tests. There are so many problems that don’t fit, Its hard to keep looking, the recurring let down is unbearable. Anyway, I’m sorry to go on like this, thank you for looking at this info, and i do understand that it’s not ALS, but thought that maybe somebody would see something that would be familiar or something they’ve heard of that could help me. Feel free to take my post down if it shouldn’t be here, again, my apologies if I overstepped with my post. Take care all.
 

andirai

Active member
Joined
Jun 22, 2017
Messages
33
Reason
PALS
Diagnosis
08/2017
Country
US
State
Tennessee
City
Clarksville
Glenn,

I went to the Mayo Clinic in Florida for my diagnosis and they were excellent. My own neurologist was afraid to make a definitive diagnosis so I went to the best. Good luck
 
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