Experts urge early prenatal genetic checks to curb spinal disorder
Dr. Salman Kirmani.
AKU Paediatrics & Child Health -https://www.aku.edu/mcpk/paeds/Pages/williams-syndrome-alcapa.aspx
Media Source: Dawn (Pakistan)
Date: 6 October 2025
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. The event ‘Beyond SMA: Unlocking the Cure’ organised by the…
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. The event ‘Beyond SMA: Unlocking the Cure’ organised by the Strive Eradication of Disability Foundation. Paediatric geneticist and Aga Khan University (AKU). Dr Salman Kirmani, metabolic specialise at AKU explained that if both parents were carriers of spinal muscular atrophy (SMA), there was 2% chance that their child would have the disease and 75% chance that the child would be a carrier without showing symptoms. Out-of-family marriages therefore represent a key strategy in preventing the transmission of genetic disorders. “SMA occurs when SMN genes fail to produce essential proteins in the spinal cord, leading to progressive muscle weakness and lifelong disability,” he added.