Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a rare genetic condition that affects the nerves responsible for muscle movement. It happens when the SMN1 (survival motor neuron ) gene doesn’t work properly, leading to low levels of the SMN protein—an important protein that keeps motor neurons healthy. Without enough of it, these nerves weaken over time, causing muscle loss that can affect sitting, walking, swallowing, or even breathing.

SMA often appears in infancy or early childhood, though milder types may show up later. The biggest risk factor is having two parents who carry the faulty gene, which increases the chance of their child being affected.

Management includes treatments that boost SMN protein levels and slow the disease, along with physiotherapy, respiratory care, good nutrition, and regular medical follow-up. With early diagnosis and coordinated care, many people with SMA can stay active, independent, and enjoy a better quality of life.