Spinal Muscular Atrophy | 27 Feb 2025

Source: IE 

A 2.5-year-old girl is the first person in the world to receive treatment for Spinal Muscular Atrophy (SMA) before birth. 

  • About SMA: It is a genetic disorder affecting motor neurons, leading to progressive muscle weakening due to SMN1 (survivor motor neuron 1) gene mutation and protein deficiency. 
    • Occurrence: It affects one in every 10,000 births, making it a leading genetic cause of infant and child mortality. 
    • Gene Transfer: SMA occurs when both parents pass SMN1 gene mutations; they are usually carriers without symptoms. 
    • Impact: It primarily affects muscles, which don’t receive signals from nerve cells. 
    • Symptoms: Weakness in voluntary muscles (shoulders, hips, thighs), respiratory and swallowing difficulties, etc. 
  • Genetic disorders are medical conditions caused by abnormalities in an individual’s genes or chromosomes, either inherited or caused by DNA mutations.
Read More: Genetic Disorders