ISLAMABAD: Health experts have called for the integration of carrier screening and prenatal testing into premarital and reproductive health protocols to help prevent new cases of Spinal Muscular Atrophy (SMA), a genetic disorder that leads to progressive muscle weakness.

During an event, they further highlighted that out-of-family marriages represent a key strategy in preventing the transmission of genetic disorders. The event ‘Beyond SMA: Unlocking the Cure’ was organised by the Strive Eradication of Disability Foundation.

Paediatric geneticist and metabolic specialist at Aga Khan University, Dr Salman Kirmani, explained that if both parents were carriers of spinal muscular atrophy (SMA), there was 25pc chance that their child would have the disease and 75pc chance that the child would be a carrier without showing symptoms. “SMA occurs when SMN genes fail to produce essential proteins in the spinal cord, leading to progressive muscle weakness and lifelong disability,” he added.

He further noted that Type 1 and Type 2 SMA were the most severe forms, often resulting in early death in infants due to complications such as pneumonia, making SMA one of the leading genetic causes of child mortality.

General Sohaib, a specialist in genetic diseases, stated that there was a unanimous decree by scholars (ulema) worldwide permitting the termination of pregnancy before 17 weeks in cases of severe genetic disorders. He emphasised that SMA qualified as such a condition due to its severity.

He further highlighted that prevention was the best cure, advocating for mass awareness and the promotion of prenatal screening to help eliminate the disease.

MNA Sehar Kamran emphasised that once a disease manifests, options become limited, making timely diagnosis absolutely crucial. She underscored the importance of preventive measures, urging society to move beyond outdated mindsets and face modern health challenges with openness and awareness.

SMA can be classified into four types depending on the severity of the disease. It can affect a child’s ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing, leading to death. Without treatment, most SMA patients do not survive past early childhood. It’s a progressive disease that causes lifelong disability in adults. There’s no cure for SMA, but ongoing treatments can help children with SMA live a better life.

Yet, due to the high costs of medicines, it cannot be provided in a timely manner to the children. The cost of one dose of medicine is 4700 US dollars, or Rs1.3 million, which is available in Pakistan at an 80 per cent subsidised rate that, too, is beyond the reach of a large segment of patients.

Published in Dawn, October 5th, 2025