What is the role of biopsy in the workup of spinal muscle atrophy (SMA)?

Updated: Aug 11, 2020
  • Author: Ashish S Ranade, MBBS, MS, MRCS; Chief Editor: Jeffrey A Goldstein, MD  more...
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In patients with SMA, incisional muscle biopsies reveal a uniform smaller diameter of all fibers. This contrasts with biopsy findings for other muscular dystrophies, which consist of degenerating muscle with variable muscle-fiber sizes. Biopsies in patients with hypotonic cerebral palsy reveal normal muscle fibers.

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