Experts highlight timely screening, newborn diagnosis to address spinal muscular atrophy

Eminent experts have underlined the need to adopt preventive strategies to tackle spinal muscular atrophy and its impact on families.

The spinal muscular atrophy (SMA) is a genetic condition characterised by the loss of motor neurons, leading to progressive muscle weakness and, in severe cases, life-threatening complications.

To address the condition effectively, it is crucial to focus on preventive measures that can help identify carriers and affected infants in a timely manner. It is also important to raise awareness among healthcare professionals, expectant parents, and the general public, Dr Sheffali Gulati, Head, Child Neurology Division, Department of Pediatrics, AlIMS said.

The National Policy for Rare Diseases (NPRD) by the government is a step in the right direction, she said, adding that it calls out newborn screening as a prime illustration of secondary prevention as it involves the screening of infants shortly after birth, before the onset of disease symptoms.

By identifying potential health issues early on, prompt treatment can be initiated, thereby effectively preventing both morbidity and mortality, Gulati stated.

Moreover, the Department of Biotechnology (DBT) has launched the UMMID initiative, built on the principle of 'prevention is better than cure', with an aim to establish NIDAN kendras in government hospitals to offer counselling, prenatal testing and diagnosis, management, and comprehensive multidisciplinary care; develop a cadre of skilled clinicians specialising in human genetics to meet the growing demand for genetic health care services; and conduct screening programmes for pregnant women and newborn babies to identify inherited genetic diseases in hospitals located in aspirational districts.

"Screening is an invaluable tool for identifying the SMA risk. These preventive tools empower prospective parents to understand their carrier status and make informed decisions about family planning. By identifying carriers early on through antenatal or prenatal screening, we can implement necessary interventions and provide adequate support to families. Once it is determined that both parents are carriers of the SMN gene, it becomes important to get a prenatal screening or newborn screening test done," Gulati said.

This also helps in putting efforts in the right direction to initiate early treatment and care to improve the life of a child, she further added.

Dr Kausik Mandal, medical geneticist, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Lucknow emphasised, "Newborn screening, which has been implemented in some regions of India, involves testing for specific genetic markers shortly after birth to identify infants with SMA before symptoms appear.

"These screening methods help in early identification, enabling timely intervention and management of SMA. It is always advisable to do antenatal screening and opt for prenatal testing (directly if the previous baby is found to have SMA), to prevent the birth of a child with SMA (if possible)," he said.

Therefore, via a multidisciplinary approach, emphasis should be put on early diagnosis which can enable timely treatment interventions that help patients to live enhanced quality lives, he added.