Discussions By Condition: Rare Disases

2 month old baby girl vith SMA

Posted In: Rare Disases 0 Replies
  • Posted By: Anonymous
  • August 12, 2010
  • 11:23 AM

I need help

My 2 month old daugter has testet positive for SMA
but they couldnt define and say what type of SMA she has or is it SMA1,2 or3

DNA resoults showed that she has SMN1 and SMN2 gene present,when they tested SMN1 gen resoult came that she only has delition of exon 7,the exon 8 is present in her SMN1 gene and is normal and not mutated.

I need info what Type of SMA she has considering that she is 2 months old and has present SMN1 and SMN2 gene and in SMN1 she has only deliton of exon7 and in SMN1 gene she has unharmed and present exon 8

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