What is the pathophysiology of spinal muscle atrophy (SMA)?

Updated: May 04, 2020
  • Author: Ashish S Ranade, MBBS, MS, MRCS; Chief Editor: Jeffrey A Goldstein, MD  more...
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SMA is caused by a mutation in the survival motor neuron (SMN) gene. This gene is normally inactive during the fetal period and allows normal apoptosis in the developing fetus. The gene becomes active in the healthy mature fetus to stabilize the neuronal population.

In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles; without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness. In the absence of the gene, programmed cell death persists. [8]  The mechanism and timing of abnormal motor neuron death remain unknown. [9, 10]

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