Process of being diagnosed

[RobbiJ]

Hi,
I have just been diagnosed as probable MND. Am waiting for the results of a Pompe test that was done before my last EMG...and a test for type 3 SMA. Once those results are in I guess my diagnosis will change to definite as my EMG showed LMN signs in my R leg, arm, cranial nerves and esophageal problems. I can't believe I'm actually hoping for Pompe disease or SMA. My symptoms started with esophageal weakness almost 15 years ago, then about 4 years ago leg weakness, then the last few months everything else. That is when my doctor finally started listening to me. A few months ago my rheumatologist actually said to me, "the muscle biopsy ruled out a myopathy, but you have some unusual nerve denervation so I'm sending you to a neurologist, but the good news is the serious things have been ruled out!"
How ironic

 

[RobbiJ]

Saw the neuro yesterday. The Pompe and SMA were both negative. He said he will do an antibody titer for MMN although that is unlikely as I have a few UMN signs...jaw jerk occ., spasticity in legs...also no conduction block. He thinks more likely slowly progressive ALS or PMA. The lab is coming to draw my blood for the antibody test next week so I will know soon.