MND but cannot find the accurate disease

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smoki611

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Jan 8, 2016
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Loved one DX
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NH
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plaistow
Hello, my daughter is 47 & for the last year has been in & out of hospitals & neurologists for Blood work, Spinal taps, Emgs, Mri's, DNA & reg blood work and the bottom line is MND, but they cannot find exactly what type it is, but was quick to rule out ALS. She needs a rollator and has twitches & spasms in her legs and stomach. She is doing PT for upper and lower body.
First I want to be sure I am on the correct web site and second I would appreciate any knowledge you can share.
Smoki
 
If you could tell us what the clinical exam shows and the EMG results we might be able to give you a better answer. When last you posted you were to be seen by dr Ropper a very experienced neurologist but not an MND specialist. Did he refer you on to a neuromuscular specialist and did you ask your question of that person? What did they say?
 
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Dr. is only working 1 day a week now and has sent her to the new Neurology Clinic (part of Brigham's & Women's) they just moved right down the street from 75 Francis st. The new doctor that Dr Ropper has sent her to is Dr. Salajegheh a clinical neurophysiology neuromuscular disease Dr , he worked under Dr Ropper and seems excellent. Dr. Salajegheh had his own ideas & is doing a deeper DNA for Spinal Muscular Atrophy (the first DNA blood work for it came back Negative , he said this test is a step future)
She had 2 EMG's and both came back showing Motor Neuron Disease. If you can tell me what actually to look for I can look at the paper work results and try and find it.
I have been on so many different medical websites that I just noticed I was on this site months ago and thought I just found this site. Sorry I repeated some of the information.
Thank you again:(
 
If the EMG was significantly abnormal you are unlikely to be looking at PLS. The things that we might comment on are the emg ( denervation and reinervation perhaps post the summary) and the clinical exam. Weakness noted by the doctor, atrophy, reflexes ( are they hyper, normal, hypo) is there Babinski or Hoffmans? Spasticity? Clonus?

It sounds like you are in good hands now so hope you will get answers. There may be elements in the sticky posts that you will find helpful in organizing your visits. There is one in the general discussion section on second opinions and one in the do I have ALS section on getting a diagnosis. The more prepared and organized you are the more answers you get from the doctor who is the only person who can really tell you what is going on. As you know, doctor visits can be overwhelming and if you are not clear in your own mind what you want to find out you may leave with more questions than you started with!
 
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