Newborn Screening: Spinal Muscular Atrophy—Newborn Screening Panel Nomination

Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.

The purpose of this page is to show providers the nomination process for spinal muscular atrophy (SMA).

What is SMA

SMA is a neurodegenerative, autosomal, recessive genetic disease. It’s seen in about 1 in 10,000 births. It affects the motor neurons in the spinal cord and involves other organs. The cause of death in people with SMA is often respiratory failure.

There are five types of SMA based on how severe it is:

• Types 0 and I—Earliest onset and most severe.
• Type II—Presents by 18 months of age. The baby can often sit but can’t walk or stand.
• Type III—Presents between 18 months and 10 years of age. The child can often learn to stand and walk but loses those skills over time.
• Type IV—Mildest form and may not show symptoms until adulthood.

Nomination process for SMA disease

The following timeline outlines the newborn screening panel nomination process:

• Nov. 6, 2017—The Wisconsin Newborn Screening Metabolic Subcommittee submitted a nomination to add SMA to the newborn screening panel. (PDF).
• Nov. 6, 2017—The Wisconsin Newborn Screening Metabolic Subcommittee had its meeting where it considered the nomination. It recommended adding SMA to the Wisconsin newborn screening panel. It forwarded this suggestion to the Wisconsin Newborn Screening Umbrella Committee.
• Dec. 1, 2017—The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation. They forwarded it to the Secretary’s Advisory Committee on Newborn Screening.
• Jan. 11, 2018—The Secretary’s Advisory Committee on Newborn Screening considered the nomination. They forwarded a recommendation report (PDF) to the Wisconsin Department of Health Services (DHS) Secretary in support.
• June 27, 2018—The Secretary approved the recommendation to add SMA to the newborn screening panel. View the SMA response letter. (PDF).
• Oct. 2019—SMA was added to the Wisconsin newborn screening panel by emergency rule.
• Jan. 2020—SMA was added to the Wisconsin newborn screening panel by permanent rule.

Questions? Contact DHSWICongenitalDisorders@dhs.wisconsin.gov.