Dr Siddharth Shah, Consultant Paediatric Neurologist & Epileptologist, RICN, Ahmedabad explains that newborn screening serves as a cornerstone for the early detection of Spinal Muscular Atrophy (SMA). By conducting screenings shortly after birth, before symptoms appear, healthcare professionals can identify potential health issues and initiate timely interventions
SMA is a complex genetic condition characterised by the progressive loss of motor neurons, leading to debilitating muscle weakness and potentially life-threatening complications. This progressive degeneration weakens the muscles, impacting mobility and essential bodily functions. SMA manifests in different types, ranging from severe forms appearing in infancy to milder variations surfacing later in childhood or adulthood. The primary cause of SMA lies in a mutation in the SMN1 gene, which plays a crucial role in motor neuron function.
Although precise data on the prevalence of SMA in India remains limited, global studies estimate that approximately 1 in 10,000 live births are affected by this condition. With thousands of individuals in India potentially grappling with SMA, it is vital to raise awareness, provide support, and develop effective strategies for early identification and intervention.
The vital role of newborn screening
Newborn screening serves as a cornerstone for the early detection of SMA. By conducting screenings shortly after birth, before symptoms appear, healthcare professionals can identify potential health issues and initiate timely interventions. Detection of SMA is a simple blood test which tests for the SMN gene and can be done in most parts of India in certified Indian labs. The results for this test are available in 5-10 days and this method is a reliable cost-effective method that is an effective technique for a confirmed diagnosis of SMA. This proactive approach empowers parents to understand their carrier status, make informed decisions regarding family planning, and access the necessary support systems from the onset.
Early intervention and multidisciplinary care are paramount in shaping the prognosis and outcomes for individuals living with SMA. Initiating therapy within the first weeks or months of life can help preserve motor function, enhance respiratory support, and potentially improve long-term outcomes. By coordinating supportive treatments such as physical therapy, respiratory support, and nutritional management, healthcare professionals optimise the quality of life for individuals with SMA, providing them with the best chances of leading fulfilling lives.
To combat SMA effectively, two primary forms of screening are employed: antenatal and prenatal. Antenatal screening involves genetic testing of prospective parents to determine whether they carry the genetic mutation associated with SMA. If both parents are identified as carriers, prenatal screening becomes crucial, enabling families to make informed decisions and access appropriate medical care and support throughout the pregnancy.
Government support for SMA: A game-changer
Recognizing the urgency of addressing SMA and other rare diseases, the Indian government has implemented the National Policy for Rare Diseases (NPRD). This policy emphasises the significance of newborn screening as a primary form of secondary prevention. By identifying potential health issues early on, prompt treatment initiation becomes possible, reducing both the morbidity and mortality associated with SMA. Government initiatives, such as establishing NIDAN Kendras in government hospitals, conducting screening programs, and nurturing a skilled cadre of clinicians specialising in human genetics, are instrumental in meeting the growing demand for genetic healthcare services.
Way forward
Spinal Muscular Atrophy (SMA) poses significant challenges to individuals and their families, but with the implementation of preventive strategies, there is hope for a brighter future. Through widespread awareness of early diagnosis, government support, and the expertise of healthcare professionals, we can transform the landscape of SMA diagnosis, treatment, and support. By embracing the power of newborn screening, early intervention, and multidisciplinary care, we take a significant step forward in improving the lives of those affected by SMA and fostering a more inclusive and compassionate society.
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