Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy

Neuromuscul Disord. 2016 Sep;26(9):551-9. doi: 10.1016/j.nmd.2016.06.459. Epub 2016 Jun 23.


Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease that leads to infant mortality worldwide. SMA is caused by genetic deletion or mutation in the survival of motor neuron 1 (SMN1) gene, which results in a deficiency in SMN protein. For reasons that are still unclear, SMN protein deficiency predominantly affects α-motor neurons, resulting in their degeneration and subsequent paralysis of limb and trunk muscles, progressing to death in severe cases. Emerging evidence suggests that SMN protein deficiency also affects the heart, autonomic nervous system, skeletal muscle, liver, pancreas and perhaps many other organs. Currently, there is no cure for SMA. Patient treatment includes respiratory care, physiotherapy, and nutritional management, which can somewhat ameliorate disease symptoms and increase life span. Fortunately, several novel therapies have advanced to human clinical trials. However, data from studies in animal models of SMA indicate that the greatest therapeutic benefit is achieved through initiating treatment as early as possible, before widespread loss of motor neurons has occurred. In this review, we discuss the merit of carrier and perinatal patient screening for SMA considering the efficacy of emerging therapeutics and the physical, emotional and financial burden of the disease on affected families and society.

Keywords: Genetic screening; Spinal muscular atrophy; Therapy.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Genetic Testing* / economics
  • Humans
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / economics
  • Muscular Atrophy, Spinal / genetics*