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

Updated: Nov 05, 2018
  • Author: Ashish S Ranade, MBBS, MS, MRCS; Chief Editor: Jeffrey A Goldstein, MD  more...
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Answer

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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