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NMD

Thank you in advance for taking the time to answer this question.
My Neurologist won’t tell me what Neuromuscular/Neurological conditions do not show up on MRI’s, Blood work, or Lumbar Puncture – CSF tests. Which I have had all of and everything that can be checked in those has been ruled out. Would you please answer that question for me? (I allready know the obvious, ALS and PLS)

I have an EMG on Monday, we are hoping to rule out ALS.  I will not bore you with my long history and long list of scary symptoms; I try not to be Chicken Little with catastrophic thinking; which seems to be the norm on here.  I think my Neuro is sheltering me because he does not want me to ask “Dr. Google” and start assuming the worst until we have more insight with the EMG. Thank you!
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Hi there. I appreciate your composure and effort to think rationally when you are afflicted with some sickness. Could you speak more about what symptoms or presenting complaints you are having? It is difficult to enumerate neurological conditions which cannot be detected from MRIs, CSF and blood workup. EMG will show up certain features characteristic of ALS. NCV or nerve conduction study can also indirectly aid in diagnosis of ALS by showing up features of peripheral neuropathy or myopathy and ALS becomes a diagnosis of exclusion. For more insight into the diagnostic possibilities, please write your symptoms on this forum. Take care.
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Thank you for the quick reply.

I presented over a year ago with stiffness and weakness in legs, primarily my right.  Has spread to both legs and now upper body.  My muscles cramp up and fascilate with no triggers.  Difficulty rising out of chairs, walking up stairs, anything that requires repetitive or sustained strength; my muscles just give out. In the last month I have had issues with chewing, swallowing and dysphagia, even breathing with exertion; I have tightness in chest.  There are also times I have electrical sensations in legs; mostly from the calves to feet. The weakness and cramping has been slowly progressing. There is no pain associated with it except stiffness and aching and when my muscles cramp. I have had to walk with a cane since Dec. '10 and for the last month have had to use a walker as my legs cramp up and give out on me and I can not hang on to things for to long because my upper body tires and my hands cramp.
I also have, ataxia hyper knee reflexes; right is worse then left,  clonus in right foot, babinski's in both feet and I am starting to lose my gag reflex.

I have been to two Rheumatologists, two Neurologists, Physiatry and a Neuromuscular Rehabilitation Therapist.  When I say we have ruled everything out that can show up on MRI's, Lung x-ray, LP = CSF and Blood work, aside from genetic testing....we have. Including; deficiencies, allergies, VDRL's, lyme, heavy metals, Autoimmune, thyroid, liver, kidney, glucose levels…..you get the idea.  I have been the human Guinea pig for the last 11 months in an effort to rule everything out and get a diagnosis so I can start proper treatment...Hope this helps. My Neuro isn't talking until after the EMG results come back, he just brushes past my questions; very annoying.
Besides ALS, what else could it be?
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