SMA is an autosomal recessive genetic disease in which an individual inherits two deleted or mutated SMN1 genes—one from each parent:4

Molecular genetic testing is an important tool in the diagnosis of SMA6,7

Although newborn screening is not yet standard practice, time to diagnosis is critical. Based on the natural history of the disease, earlier diagnosis leading to earlier intervention may help improve outcomes for individuals with SMA.10

References

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