How is spinal muscle atrophy (SMA) diagnosed?

Updated: May 04, 2020
  • Author: Ashish S Ranade, MBBS, MS, MRCS; Chief Editor: Jeffrey A Goldstein, MD  more...
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SMA is often diagnosed clinically on the basis of the child's physical appearance. The diagnosis may be suspected when children are noted to be weak or to have a delay in their developmental milestones, such as holding their head up, rolling over, sitting independently, standing, or walking later than would be expected.

After a thorough medical history is reviewed and a physical examination is performed, the primary care provider may order genetic testing through a blood sample, or the child may be referred to a neurologist who will also perform an examination and then order genetic testing (again through a blood sample) to confirm the diagnosis.

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