Spinal Muscular Atrophy: Early Diagnosis Is Key In Managing The Rare Genetic Disorder

Spinal muscular atrophy can severely impact a child's motor skills, hindering their ability to crawl, walk, sit up, and control head movements.

Dr Sanjukta Dey

Spinal muscular atrophy (SMA) is a rare genetic disorder characterised by muscle weakness and atrophy, causing muscles to become weaker over time. This condition can severely impact a child's motor skills, hindering their ability to crawl, walk, sit up, and control head movements. In India, the incidence of SMA is approximately one in 10,000 live-born babies, with a carrier frequency of one in 38 individuals. To manage this condition, proactive preventive measures like newborn screening of the high-risk child, prenatal screening/antenatal screening are essential.

Antenatal screening refers to the care of a pregnant woman

Timely Detection of SMA

Early detection through prenatal screening and newborn screening play pivotal roles in managing SMA effectively, providing timely interventions and improving the quality of life for affected individuals and their families. By using these tests, healthcare professionals can diagnose SMA early, enabling them to implement appropriate management strategies and support for both individuals with SMA and their families.

Primary prevention techniques like prenatal screening can be done during pregnancy to determine if the foetus has SMA. It usually involves analysing a sample of the mother's blood or conducting an amniocentesis or chorionic villus sampling to obtain foetal DNA for testing. Prenatal screening can help parents make informed decisions about the pregnancy and plan for appropriate care if the foetus is identified as having SMA. This method of screening is available in tertiary care hospitals in India. Whereas newborn screening is a test which is performed shortly after birth to identify infants with SMA. It typically involves taking a small blood sample from the baby's heel and testing it for the presence of SMA gene mutations.

Advocating the Adoption of Newborn Screening Models

Raising awareness among healthcare professionals, expectant parents, and the public is crucial in promoting preventive strategies, including the incorporation of newborn screening as part of basic newborn care nationwide.

The government's National Policy for Rare Diseases (NPRD) is a commendable step forward in this direction. Notably, the NPRD highlights newborn screening as a best example of secondary prevention, where infants are screened shortly after birth, even before the manifestation of disease symptoms. The Department of Biotechnology (DBT) has also launched the UMMID Initiative, emphasising 'Prevention is better than Cure.' This initiative establishes NIDAN Kendras in Government Hospitals, providing a diverse range of services and offering counselling, prenatal testing, diagnosis, and comprehensive multidisciplinary care for individuals and families impacted by genetic diseases.

Additionally, the initiative includes screening programs designed for pregnant women and newborn babies. These screenings are particularly targeted towards hospitals located in aspirational districts, emphasising the commitment to provide quality healthcare services to underserved regions.

Way Forward

Early diagnosis and screening hold the key to tackling the challenges posed by SMA. By detecting the condition at its onset and promptly implementing suitable interventions, its progression can be slowed down, and the overall quality of life for those affected can be improved.

Implementing a comprehensive approach is also essential in managing SMA effectively. Multidisciplinary clinics with specialists such as physiotherapists, occupational therapists, dietitians, orthotists, and psychologists are crucial in providing support and enhancing the quality of life for those living with SMA. Access to physiotherapy, occupational therapy, and other supportive services plays a vital role in improving functional abilities and overall well-being.

Healthcare systems, policymakers, and families must collaborate closely in implementing newborn screening programs and adopting a holistic approach to managing SMA effectively. Overall, we must sensitise the healthcare system, including both government and private sectors, to prioritise early detection of SMA.

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(The author is a consultant in the Department of Pediatrics & Neonatology, Peerless Hospital, Kolkata)

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