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Spinal muscular atrophy, like many other genetic disorders, is passed on in an autosomal recessive fashion, which means that mother and father will both be carriers of a genetic mutation in the SMN1 gene. When both parents are carriers of a mutation in the same gene, there is approximately a 25% risk that the child will have the disease.

Approximately one in 30–60 Caucasians is a carrier of SMN1 mutation which potentially may result in SMA in the child.

Carrier, preimplantation and prenatal diagnostic tests are available.

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