I have DMRV (Nonaka) -- I think -- Hereditary Inclusion Body Myopathy (IBM2) Forum

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Date Posted: 16:06:47 01/15/02 Tue
Author: Taylor Hines
Subject: I have DMRV (Nonaka) -- I think

Dr. Darvish,
Hello. I found your name on the web in conjunction with the gene locus of DMRV, specifically in relation to Persian Jewish families. I am an 25 Anglo Saxon male diagnosed with some form of Inclusion body distal myopathy at age 21. Most of my symptoms are consistent with Nonaka style DMRV (two major exceptions seem to be that I had a very high CK (around 2000) count upon diagnosis, and it seems likely that I had been experiencing some very limited impairment throughout much of my childhood (I always ran and jumped poorly and a bit awkwardly). Muscle progression seems to follow DMRV pattern, although I fear that I am progressing quite quickly and many muscles are already involved. Tibial muscles are totally gone, while quads remain (relatively) strong. I am still able to walk with crutches and leg braces, and currently use a scooter for distance. Before the weakening of a muscle, I typically feel small flicks in the area, which are sometimes visible to the naked eye, which I have not seen listed in any medical papers. No family member has been diagnosed with this condition, although I was the only child to survive pregnancy (my mother had 3-4 late miscarriages).

I was wondering if you could inform me who in the United States is currently working on this condition. I'm especially interested in confirming my diagnosis (my original neurologists at UCLA were not positive, although they suspected Nonaka), and learning more about my prognosis. I'd be happy to contribute to genetic research if I can. Another plus would be to find others with this condition, as I have not yet located anyone else with it and very much would like to. Is this condition identical with that found among Persian Jews, or mearly similar? Is it possible that the same etiology applies?

I greatly appreciate your time in replying to me. Note, I will probably be returning to Los Angeles (which is home) in mid-May.

With best wishes,
Taylor Hines
NPP Program Officer
National Organization on Disability
910 16th St, NW, Suite 600
Washington, DC 20006
202-293-5960
It's ability, not disability, that counts.

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