DEGENERATIVE DISEASES COMMUNITY
mitochondrial disorder

mitochondrial disorder

My 3 year old daught has a suspected neuromuscular disorder, possibly mitochondrial (due to very high CK levels 3000, 2500, and 300 when tested). The doctor did explain the other elevated blood work that made them think it was mito., but I don't remember what they were.
My daughter's results, including MRI, was reviewed by a new geneticist, who is thinking that there micropolygyria in her frontal lobe as well. We have not yet had a consultation, and I'm sick with worry about what this might all mean. If anyone has any knowledge about how elevated CK and micropolygyria might be connected, I would appreciate the feedback. And any ideas for treatment options, prognosis, etc???
Thanks
Worried Mom
701810_tn?1230695675
Hi, i have a 10 month old niece who is suspected of having one of the strains of mito. . . she has involuntary muscle movements, can not talk, cry, smile or move voluntarily. . she  has a feeding tube that goes straight into her intestine as her stomach can not handle anything. .. what are your daughters symptoms? are they similar? we are in your shoes in still trying to find an answer as she has been like this since birth

Good luck.  .
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