How is spinal muscular atrophy (SMA) diagnosed?

A pediatrician or neurologist may order genetic testing, which can help confirm or
rule out an SMA diagnosis

Genetic testing is the most accurate way to confirm whether or not an individual has the SMN1 gene mutation that causes SMA. This test is also referred to as an SMN gene deletion test. The copy number of the SMN2 gene can also be determined. Approximately 95% to 98% of individuals with a clinical diagnosis of spinal muscular atrophy have a mutation in the SMN1 gene. The SMN gene deletion test is performed by several diagnostic laboratories. The results can be achieved in approximately 3 to 4 weeks, though this may vary by center.

A list of commonly used terms is available here

The first thing a doctor may notice in a baby with spinal muscular atrophy
is floppiness or decreased muscle tone (hypotonia)

Since hypotonia is a common finding in several genetic conditions, a doctor may order a congenital hypotonia panel. This will test for spinal muscular atrophy as well as myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal uniparental disomy 14. The turnaround time for a congenital hypotonia panel is approximately 3 weeks.

Arriving at an SMA diagnosis may take some medical detective work

Because the signs and symptoms of SMA occur at different ages and with different severity, an initial diagnosis can be delayed. A recent survey of parents and doctors showed that the recognition of SMA symptoms and finding a diagnosis required numerous visits to their pediatrician and specialists. 

Healthcare providers may use other diagnostic tests, including additional genetic testing, electromyography, or a blood test to measure the level of creatine kinase—an enzyme that leaks out of deteriorating muscles. Unlike a genetic molecular blood test, these tests may not accurately confirm a spinal muscular atrophy diagnosis. However, they may be used to rule out other forms of muscle disease.

Newborn screening

Although newborn screening is not yet standard practice, time to an SMA diagnosis is critical. Earlier diagnosis may help improve outcomes for children with spinal muscular atrophy.

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