tj
14 posts
January 5, 2015 4:09 PM MST
Are any of you missing the skeletal tubulofilaments so are negative PABPN 1? Did this make your diagnoses more difficult?
Jersey Girl
65 posts
January 20, 2015 7:59 AM MST
I do not know the answer to this question about myself, I’m embarrassed to say. I have officially been diagnosed, however, so maybe it is a moot point?
tj
14 posts
January 20, 2015 9:19 AM MST
I guess it depends on how you were diagnosed and your personality whether it is completley moot. The gene testinis becoming more prevelent and when PABPN1 positive muscle biopsy isn’t necessary They are doing additinal test with a positive PABN1 and learning wheter it is recessive or not. it can help with genetic counseling for iones kids (if it not to late) and there are big differences in the progression of the diseases between the two. There of course are no gurantees whats going to happen, but sometimes its nice to be able to set some expectations and planning… Insttead of waking up everyday wondering where this thing is going. This is an overly technical article but there are some “nuggets to be mined”:
Jersey Girl
65 posts
January 20, 2015 10:30 AM MST
Interesting, TJ, because the only test I ever got that was considered conclusive was an EMG. My mother had the muscle biopsy taken from the front of her thigh in the late 90’s, and was diagnosed from that.
In 2003 parents moved from the New York City area to Wisconsin, where I live. My mother and I were then seeing the same neurologist in Eau Claire, WI and she was his first OPMD patient. When I started experiencing symptoms, he felt that an EMG was as far as we needed to go with me.
Interestingly, the neurologist I now see at the MD Clinic told me that my blood work showed that my mutation was “short”. What made that interesting is that I don’t remember ever having given blood at the MD Clinic!
There is absolutely no question as to whether I have it or not, as all of my symptoms are classic. However, for the sake of information going forward I think I need to clarify this with the neurologist that I now see at the MD Clinic!
Carol
Cheryl
1 post
January 29, 2015 2:01 AM MST
tj, I was not aware of positive or negative PABPN1. Are they recessive or aggressive differences? I was genetically tested in 1999, so will need to look for results, but to me and my family there just seemed to be different predominant symptoms in a generally similar range of pool of problems. …if that makes sense. Like my Mother had more problems with swallowing at a younger age, with all other problems occurring later. My earlier symptoms were leg pain and weakness, with other symptoms showing up after. It all kind of catches up I guess, but there doesn’t seem to be any identical progression.
Jersey Girl
65 posts
March 24, 2015 7:13 AM MDT
I had my annual visit with the MD Clinic in Minneapolis yesterday.
The doctor told me I am PABPN2 with an extension of nine; six being normal.
He said that since my extension is “short”, or “small”, I probably won’t experience worst case scenario of what OPMD can do as I grow older. That was hopeful news.
Also, in measuring my muscle strength he hasn’t seen much deterioration since last year, so I’m holding my ground. 
Jersey Girl
Jersey Girl
65 posts
April 22, 2015 11:21 AM MDT
Crazy enough, though I was diagnosed in 2005 I just had the blood test done about two months ago. Apparently they have changed the way they count the repeats just a bit. It used to be that 6 or fewer repeats was normal. Now it is based on 10 or fewer being normal.
This is what I received from the genetic counselor:
“Testing involves determining the size of the GCG repeats within the PAPB2 gene. The normal size of repeats is 10 repeats. If there are 12 or more GCG repeats present in at least one copy of the PAPB2 gene than it confirms the diagnosis of OPMD.”
JB