How is Spinal Muscular Atrophy (SMA) Diagnosed
SMA is most commonly caused by missing or non-working copies of the SMN1 gene, which leads to low levels of survival motor neuron protein and progressive muscle weakness. SMA affects motor neurons and can lead to weakness and wasting of skeletal muscles. The process of diagnosing SMA may begin when a healthcare provider notices signs such as low muscle tone, delayed motor milestones, muscle weakness, difficulty sitting or standing, trouble feeding, weak cough, breathing concerns, or progressive loss of strength.
A medical history, physical exam, and neurological exam can help guide the next steps, but genetic testing is the key tool used to confirm Spinal Muscular Atrophy. Genetic testing that identifies a homozygous SMN1 deletion or conversion confirms the diagnosis in more than 95% of SMA patients. Newborn screening for SMA is primarily based on real-time PCR testing that detects the common SMN1 deletion, with follow-up molecular genetic testing recommended after a positive screen.
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