How is spinal muscular atrophy (SMA) prevented?

Updated: Jan 03, 2017
  • Author: ; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Answer

Genetic counseling should be offered to all families of patients with spinal muscular atrophy. Obtaining a complete family history facilitates genetic counseling. Carrier testing is available for commercial use. A recent study of 68,471 individuals showed that carrier-status testing may be feasible given the high carrier prevalence (1 in 54 overall). [55]

Education on how the disease is inherited may avert conception of affected individuals.

Furthermore, the role of prenatal diagnosis, particularly in pregnant carriers or those with juvenile or adult-onset forms, should also be addressed.


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