Experts urge genetic screening, prenatal tests to curb rising SMA cases in Pakistan

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 causes progressive muscle weakness and disability.

The call was made at an event titled “Beyond SMA: Unlocking the Cure”, organised by the Strive Eradication of Disability Foundation (Strive). The session unveiled “Strive’s SMA Endgame Plan (2025–2030)”, outlining initiatives to accelerate treatment access, advocacy, and research toward a cure.

Dr Salman Kirmani, Paediatric Geneticist and Metabolic Specialist at the Aga Khan University Hospital, said that if both parents are carriers of SMA, there is a 25 per cent chance their child will have the disease and a 75 per cent chance of being a carrier without symptoms. He explained that SMA occurs when SMN genes fail to produce essential proteins in the spinal cord, leading to muscle weakness and lifelong disability.

Dr Kirmani noted that Types 1 and 2 are the most severe forms, often causing death in infancy due to complications such as pneumonia, making SMA one of the leading genetic causes of child mortality. He added that marrying outside the family remains the safest way to prevent such disorders. However, couples who are blood relatives can assess their children’s risk through genetic screening.

Dr Sohaib, a specialist in genetic diseases, said that scholars worldwide unanimously permit termination of pregnancy before 17 weeks in cases of severe genetic disorders, and SMA qualifies due to its severity. He stressed that prevention is the best cure and called for widespread awareness and promotion of prenatal screening.

Echoing the same message, MNA Sehar Kamran emphasised that once a disease manifests, treatment options become limited, making timely diagnosis crucial. She urged society to move beyond outdated mindsets and embrace preventive healthcare practices.

A video screened at the event featured parents who have lost multiple children to SMA and are awaiting treatment for surviving ones. They described the devastation caused by the disease and appealed for preventive action to protect future generations.

The event also marked the launch of a National SMA Registry, aimed at collecting centralised data to support treatment, funding, and policy decisions.

Strive’s CEO and Director, Muhammad Yasir Khan, said the initiative would help identify at-risk families for screening and ensure patients from across Pakistan can register for assistance. Since SMA is genetic, he said, screening and counselling can significantly reduce new cases, while patient data will guide treatment and policymaking.

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SMA is one of the most severe genetic disorders affecting infants and children globally. In Pakistan, its impact is worsened by limited diagnostic infrastructure, lack of genetic services, and restricted access to treatment. The disease affects mobility, breathing, and swallowing, often leading to early death without treatment.

Though no cure exists, ongoing treatments can help children live better lives. However, their cost remains prohibitive — one dose costs around $4,700 (Rs1.3 million), even at an 80 per cent subsidised rate.

From 2022 to 2025, “Strive” supported treatment for 101 patients across Pakistan, said Saman Fatima, the foundation’s Development and Operations Lead. Of these, 28 patients received 62 medicine cycles costing Rs69 million, while 73 others secured funding through government and donor support facilitated by Strive.

Saba Bajeer