What is the pathophysiology 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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Answer

In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron (SMN), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. More than 95% of patients with spinal muscular atrophy have a homozygous disruption in the SMN1 gene on chromosome 5q, caused by mutation, deletion, or rearrangement. However, all patients with spinal muscular atrophy retain at least 1 copy of SMN2, which generates only 10% of the amount of full-length SMN protein versus SMN1. This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10]


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