Thursday, May 8, 2014

Myotonic Dystrophy

I got my results back from the genetics lab at NYGH today - I do have myotonic dystrophy too, (DM1), albeit a mild case.   It wasn't really a surprise, given my "claw hand", morning back stiffness, and the doctor's suspicions based on my smile (due to weaker facial muscles I guess - not the same lines as people without DM1)

Comparatively speaking, I have 100 repeats of the genetic code, my Dad has less repeats (65), and Christopher has more repeats (over 500).

Usually, people can have between 3 & 50 repeats of this code, and they would be healthy & normal.

It is thought to have come from the Tevendale side of the family.


Here's a link with an interesting chart about what DM1 can affect...
How DM affects your body Perhaps my GI issues are part of this whole thing...

One big question now is - do we get Jeremy tested, or wait until symptoms present themselves?

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