Newborn Screening: Spinal Muscular Atrophy (SMA)

Background

Spinal Muscular Atrophy (SMA) is a neurodegenerative autosomal recessive genetic disease with an estimated incidence of one in 10,000 births. It affects the motor neurons in the spinal cord, and involves multiple organs. Cause of death is usually respiratory failure. There are five types of SMA, based on severity.

  • Types 0 and I have the earliest onset and are the most severe.
  • Type II usually presents by 18 months of age; children with type II can usually sit but cannot stand or walk.
  • Type III manifests between 18 months and 10 years; children can learn to stand and walk, but usually lose these skills over time.
  • Type IV is the mildest form and may not show symptoms until adulthood.

Nomination Process

  • The Wisconsin Newborn Screening Metabolic Subcommittee submitted the nomination of SMA. The Metabolic Subcommittee considered the nomination during a meeting on Nov. 6, 2017, and recommended adding SMA to the Wisconsin Newborn Screening (NBS) panel. The subcommittee forwarded their recommendation to the Umbrella Committee.
  • The Newborn Screening Umbrella Committee considered the nomination and recommended adding SMA to the NBS panel of conditions. The Umbrella Committee forwarded their recommendation to the Secretary's Advisory Committee on Newborn Screening.
  • The Secretary's Advisory Committee on Newborn Screening (SACNBS) considered the nomination on Jan. 11, 2018, and forwarded a recommendation (a report) to the Secretary of the Department of Health Services in support of adding SMA to the NBS panel of conditions.
  • The Secretary approved the recommendation to add SMA to the NBS panel of conditions on June 27, 2018.

If you have questions about the SMA nomination process, please contact the Newborn Screening Program.

Return to Newborn Screening.

Last Revised: June 8, 2020