SMA is a genetic condition characterized by weakness of the skeletal and respiratory muscles which can present as early as in the womb or present during early or later childhood, and even sometimes during adulthood. This condition is caused by a deletion in both copies of a person’s survival motor neuron 1 (SMN1) gene. Approximately 1 in 40-50 people are carriers of this condition.

Genetics Center offers both carrier testing and diagnostic testing for SMA from a cheek swab, saliva sample or blood. Our laboratory also includes SMN2 copy number on all diagnostic test results.

While there is no cure for SMA, recent medical advances have provided a treatment for this condition which is very promising.