My son has had a normal MRI of the brain. His aldolase levels are high but his CPK levels are normal. He has always had low muscle tone especially in the oral area and legs and trunk. He used to have it in arms too but thanks to PT he is now extremely strong there and can pull himself up on many things with his arms! He is a bright boy but this hypotonia (low tone) is a driving mystery. His neurologist (who thought it was congenital myopathy) right now is repeating the blood tests to double check* results for any lab errors but any clue as to what could cause this? He is developmentally delayed in speech, OT, and Pt. (the speech therapist suggested apraxia?) I would like to know what is causing this so I know what to expect and how to help him best. Any clues or suggestions out there?
*blood work came out exactly the same.
Also i have had a few people mention the possibility of Muscular Dystrophy... any credit to this idea?
no. This is the first tests they did for his hypotonia. We did just get him special braces for his feet, SureSteps. They are awesome and from the second he had them on I could notice a difference! But still doesn't help with the rest of the concerns. We also just found out he has low tone down his esophagus too. So he has to just drink extra liquids after eating to wash everything down.
They had thought it was the Congenital Myopathy but with these test results that kinda threw the Neurologist we are seeing for a loop, basically he has no idea... very frustrating. What are they testing yours for? Didn't know of any genetic testing that would answer what is going on.
I was frightened to, but now I've gotten to the point of just being so frustrated and doing more with the therapists than the dr's that I just look for my own answers and then take it to the dr's to get the testing done. I think they think its nothing to worry about but its not their kid they have to watch struggling with everything!
Does your son go to therapy? I would recommend it! The therapists are the ones who suggested the swallow test to find out about his esophagus, the braces to help him walk without always falling and hitting his head and things to help us help him at home. I appreciate the dr profession but sometimes they don't seem to have the answers I needed.
BTW I am so glad that someone else out there has a kid with this... well not glad, wish no one had to deal with it, but also that my kid isn't alone.... does that make sense? anyhow, hope to hear from you again soon!
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