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I have had proximal leg weakness for the past 9+ years very slow progressing. After 7-8 years I finally asked the doctor and showed lower motor neuron signs like Absent / demenished deep tendon reflex, with no Upper motor signs, and my EMG showed denervation as well as my muscle biopsy showed denervation. He diagnosed me with SMA but my genetic testing came back negative but the doc said it was still SMA so I went to the international SMA conference and spoke to the researchers. They all agreed I should be tested for Tay Sachs, and it can't be SMA if it is not on the SMN 1 or 2 gene. I went to the MDA clinic to see a new doctor and for the first time 3 months ago I am presenting with Upper Motor neuron signs lke Babinski sign and some hyperreflexia in my hands. I have recently noticed some weakness in my arms and hands. My hands are visabily showing atropy and I keep dropping things. He did another EMG and and it showed the same. He said the EMG looks like SMA, polio as a kid, but it must be PMA. It could be turning into traditional ALS.
Since my appointment 3 months ago it is progressing faster in my hands and trunk.

I know ALS is very individualized but does anyone know if it starts in the legs does it usually go to the hands and arms then the bulbar and lungs?

If it starts slower like with Lower motor neuron signs does it usually continue slower?

Has anyone had similar progression?

I have only seen the last doctor once and this is when I started presenting with UMN signs. My EMG is indicative of ALS in all regions, I have UMN signs, and I'm progression. He says it isn't SMA because of the UMN signs and the genetic testing, and PMA is only LMN but he didn't really diagnos ALS. Like I said I only saw him once so far and I have progressed in my hands in the last three months. Do the doctors usually have to see the progression before diagnosing ALS?

Thank you for all your help!
 

jb63

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Dec 13, 2011
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12/2011
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NY
This forum is rather inactive. I suggest you move it to ALS/NMD general discussion or to PALS discussion.
 
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