Discussions By Condition: I cannot get a diagnosis.

6 month old needs your help-hypotonia

Posted In: I cannot get a diagnosis. 9 Replies
  • Posted By: Anonymous
  • March 21, 2009
  • 05:31 AM

Here's a bit of background info. When born, my son had simian creases on both hands, and at first glance looked as if his head was bigger and ears lower set. A nurse brought up down syndrome, but after measurements the doctors said everything measured normal and he didn't have DS.

Due to switching insurance companies and me having surgery, my son wasn't seen again until he was about 5 months old where they started getting him up to date on shots. As soon as the doctor examined him, he wanted to order a chromosome test. He asked to see his hands and before he could finish the thought, I told him that my son had simian lines, if that's what he was looking for. He told me my son's muscle tone wasn't as good as a 2 month old.

Tests came back that he does not have down syndrome. My son's facial features are perfectly normal, but he has been diagnosed with hypotonia (weak muscles) and of course he has the simian lines. His Physical therapist says that it could just be that he has the Hypotonia, but often it is a symptom of something else.. i.e. muscular dystrophy, etc. They said that paired with the simian lines, we should get a genetic test done to see if there's another issue.

I have looked online all day long at the many illnesses/diseases that can cause hypotonia, and may even explain simian lines and/or other little things he my have. I have narrowed it down to about 6 things. He is very vocal, and the hypotonia is mild. His legs have some strength in them and his hands are very strong, which is more unusual with hypotonia. His arms and shoulders are weak, and he can't sit, and is hunched when held sitting.

If anyone has any idea what this could be considering everything here, it would be a great help to us because it's hard to diagnose the main source of hypotonia. I am making a list for the doctor so that no stone goes unturned. The sooner we piece this together, the better the chance that he will sit, crawl, and walk like any other child.

Thanks in advance

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