Spinal Muscular Atrophy – UPSC Prelims

Spinal muscular atrophy is a rare genetic disease. The person suffering from this disease cannot control the movement of their muscles.

Caused By: It is caused by the loss of nerve cells that carry electrical signals from the brain to the muscles. The protein needed for this signalling is coded by a gene. Everyone has two copies of this gene- one from the mother and the other from the father. A child develops this disorder only if both the copies are faulty.

Vulnerable Group: The disease most often affects babies and children. With time, it progresses and makes it extremely difficult for the babies to carry out basic activities like sitting up, lifting their head, or swallowing milk.

Gene Therapy Treatment: There is also a gene therapy treatment named Zolgensma which replaces the faulty gene. US regulators approved this therapy in May 2019.

Zolgensma works by supplying a healthy copy of the faulty gene. It allows nerve cells to then start producing the needed protein. This halts the deterioration of the nerve cells and allows the baby to grow more normally.