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SMA carrier test?
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SMA carrier test?

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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Avatar_m_tn
There are the following tets to diagnose spinal musculat atrophy-electromyography testing,muscle biopsy,genetic testing.Genetic testing confirms the diagnosis and allows screening for the carrier state in parents and asymptomatic relatives.There is  possibility of the offspring having SMA even after invitro fertilisation.
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Avatar_dr_m_tn
Hi,
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,
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