Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal for Spinal Muscular Atrophy (SMA), your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, SMA can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for additional testing.
The Neurology Clinic at Primary Children’s Hospital cares for babies diagnosed with SMA.
About SMA
SMA is the loss of motor nerve cells in the spinal cord causing muscle weakness. Symptoms include difficulty crawling, walking, breathing, swallowing, and reduced head and neck control.
There are several types of SMA. Symptoms can begin at different ages. Treatments are available that can possibly improve quality of life if begun early.
Types of SMA
- Type 0 SMA – (Congenital Spinal Muscular Atrophy), symptoms begin before birth
- Type I SMA – (Severe Spinal Muscular Atrophy, Werdnig-Hoffman Disease), symptoms begin between birth and six months of age
- Type II SMA – (Intermediate Spinal Muscular Atrophy, Dubowitz Disease), symptoms begin between six and eighteen months of age
- Type III SMA – (Juvenile Spinal Muscular Atrophy, Kugelberg-Welander Disease), symptoms begin after eighteen months of age
- Type IV SMA – symptoms begin in early adulthood
Frequency
SMA affects approximately 1 in 6,000 to 1 in 10,000 babies in the United States.
Condition Type
SMA is a Neuromuscular Disorder.
Also Known As
Spinal Muscular Atrophy, SMN1, RNaseP, Congenital Spinal Muscular Atrophy, Werdnig-Hoffman Disease, Severe Spinal Muscular Atrophy, Dubowitz Disease, Intermediate Spinal Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Kugelberg-Welander Disease