Rapid Fire
Spinal Muscular Atrophy
- 27 Feb 2025
- 1 min read
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 |
