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

Updated: May 29, 2019
  • Author: Jeffrey Rosenfeld, MD, PhD, FAAN; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Muscle biopsy may necessary to differentiate spinal muscular atrophies from other neuromuscular disorders if genetic analysis is unrevealing. Muscle selection should be centered on clinically affected muscles but not to such a degree that degeneration renders the tissue unrecognizable.

Adequate results can be obtained with open or needle biopsy as long as the physician has adequate experience in the procedure and in processing of the tissue.

Electron microscopy can be used to evaluate for storage diseases.

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