How is spinal muscle atrophy (SMA) diagnosed?
-
How is spinal muscle atrophy (SMA) diagnosed?
-
@omar 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.