Information about the diagnosis of SMA
What was found on the Early Check screening test?
- This was a SCREENING test and only told us that your child MAY have SMA
- Another confirmatory test was needed to know for sure
What was found on the confirmatory test?
- This was a DIAGNOSTIC test and was the most important test to determine if your child has SMA
- This test found that your baby is missing the survival motor neuron 1 gene (SMN1).
- These results officially CONFIRM the diagnosis of SMA in your child
What is SMA?
- Individuals with SMA cannot properly produce a protein called survival motor neuron protein. The nerves that control muscles need this protein.
- Without this protein, the motor neurons shrink and eventually no longer work, causing severe muscle weakness that can be fatal.
Types of SMA
- There are four types of SMA, and they vary in severity.
- Newborn screening cannot determine what type of SMA your child may have; however, additional testing can help determine the severity of your child’s condition.
- No two people with SMA have identical experiences
- Even among those with the same type, the progression of the disease can differ
What health problems can it cause?
- If not treated, the most severe and most common type, SMA type 1, is often fatal in the first two years of life. Other types of SMA are less severe, but can cause significant symptoms.
- The symptoms of SMA can affect the ability to roll, sit, crawl, stand, or walk. They can also affect the child’s ability to breathe, cough, or eat. The extent of these symptoms will also depend on the type of SMA present, the level of care received, and how well the child responds to drug treatment.
- SMA does not affect a child’s ability to think, learn, or build relationships with others.
What treatment options are available?
Early diagnosis and early treatment of SMA are very important!
Possible treatments for young children can include:
- Treatment with Spinraza (also called Nusinersin) or Zolgensma (gene therapy). These are two different FDA-approved therapies that treat the underlying cause of SMA
- Supportive therapies for breathing, coughing, and eating
- Physical and occupational therapy
Your child may also qualify for one or more clinical trials testing new potential treatments for SMA. All decisions on treatment and care should be made in consultation with a pediatric neurologist who has expertise in SMA.
Where did this come from?
- SMA is common among people of all races and ethnic groups.
- Typically, children inherit two copies of the SMN1 gene, one from each parent. For children with SMA, both parents are carriers for the gene.
- SMA runs in families, which means that parents who have one child with SMA have a higher risk of having other children with SMA. That risk is 25%, or 1 chance in 4.
- You should know that nothing parents do before or during pregnancy causes a baby to have SMA.
What happens next?
Early Check genetics and neurology specialists will help you understand what SMA means for your baby and what treatments are available. We can help coordinate any additional testing and treatment with your baby's doctor and specialists familiar with SMA.
