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Spinal Muscular Atrophy : First Person To Be Treated

Spinal Muscular Atrophy : First Person To Be Treated

A 2.5-year-old girl is the first person in the world to receive treatment for Spinal Muscular Atrophy (SMA) before birth.SMA is a genetic disorder affecting motor neurons, leading to progressive muscle weakening due to SMN1 (survivor motor neuron 1) gene mutation and protein deficiency. It affects one in every 10,000 births, making it a leading genetic cause of infant and child mortality. SMA occurs when both parents pass SMN1 gene mutations; they are usually carriers without symptoms. 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.