Spinal Muscular Atrophy | 23 Jun 2025

Source: TH

In a first-of-its-kind medical intervention in India, a newborn with the SMN1 gene mutation for Spinal Muscular Atrophy (SMA) is receiving presymptomatic treatment using Risdiplam, a rare disease-modifying drug given to prevent motor neuron degeneration.

Spinal Muscular Atrophy

• About: It is a genetic disorder caused by an SMN1 gene mutation and protein deficiency, leading to the progressive weakening of muscles due to damage to motor neurons.
  • Genetic disorders are caused by abnormalities in genes or chromosomes, either inherited or due to DNA mutations.
• Occurrence: It affects one in every 10,000 births and is a major genetic cause of infant and child mortality.
• Gene Transfer: SMA occurs when both parents pass on SMN1 gene mutations, though they are typically carriers without showing symptoms.
• Impact: It mainly affects muscles that fail to receive signals from nerve cells.
• Symptoms: It causes weakness in voluntary muscles like the shoulders, hips, and thighs, along with breathing and swallowing difficulties, while involuntary muscles (heart, blood vessels, digestive tract) remain unaffected.