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SMA carrier test?
by babysitter1982, May 24, 2008 10:53AM
My son tested positive for spinal muscular atrophy type III. I want to warn my siblings about it so they can get tested but I don't know the name of the test. what is the name of the test, is it a blood test like the one my sonhad? What happens if a couple is positive and they decide to do invitro, what are the chances that its going to work? Thanks...
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Spinal muscular arophy is due to genetic defect on chromosome 5q.Genetic transmission may be upto 50%.Your son is suffering from SMA type 3 also known as Kugelberg-Welander Disease or Juvenile SMA.Main symtom is proximal muscular weakness.Best screening test for sibling/offspring is genetic testing for chromosome 5 which is a type of DNA based blood test.
Regard,