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Because each parent is a carrier of a mutation causing SMA, this couple's risk for having a child with SMA is 25% for each pregnancy. Thus, one option for this couple is to do nothing at all and ...
genetic testing to help determine the type of SMA, carrier testing from family members, prenatal testing before the baby is born, an EMG and nerve conduction study, and muscle biopsies.
Combining a premade SMN protein with a Spinraza-like drug (targets SMN2 gene) helped patient-derived motor neurons; potential ...