Spinal Muscular Atrophy Diagnosis

Spinal muscular atrophy (SMA) is diagnosed after symptoms start and after testing is done. For instance, early signs of muscle weakness may point to the disease.

Other tests can confirm SMA. These include:

  • Blood tests: These check for the gene that causes SMA.
  • Muscle biopsy: The healthcare provider takes a sample of muscle tissue to look at under a microscope.
  • Electromyogram: This test can find electrical problems in the muscles.