Early diagnosis of Spinal Muscular Atrophy (SMA) allows healthcare professionals to implement appropriate strategies to manage the condition effectively. Let’s understand the importance of prenatal screening and newborn screening for SMA.
Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord, resulting in muscle weakness and progressive loss of movement. SMA is a progressive condition and poses significant challenges. Early detection plays a pivotal role in managing SMA effectively.
Two crucial screening methods for SMA are newborn screening and prenatal/antenatal screening. These tests enable healthcare professionals to diagnose SMA early, allowing them to implement appropriate management strategies.
Raising awareness among healthcare professionals, expectant parents and the public is of paramount importance to tackle the pressing need for preventive strategies. The government’s National Policy for Rare Diseases (NPRD) highlights the importance of newborn screening for secondary prevention of SMA in infants.
Dr Jasodhara Chaudhuri, Consultant Neurologist and Pediatric Neurologist Assistant Professor of Neurology at NRS Medical College and Hospital, tells us more about these screening tests for SMA, as well as how this condition is managed or treated.
Q. Newborn screening for SMA: When exactly it is done and how it is done?
Newborn screening is a vital procedure conducted shortly after birth to identify high-risk infants with SMA. It involves collecting a small blood sample from the baby’s heel and analysing it for SMA gene mutations. Serving as a cornerstone for early detection, this screening is performed before symptoms manifest, enabling healthcare professionals to identify potential health issues and initiate timely interventions. The results are typically available within 5-10 days, making it a reliable and cost-effective method for confirming a diagnosis of SMA.
Early detection ensures that families can access the necessary support systems right from the outset, enhancing the overall management and care for children affected by SMA. Newborn screening plays a pivotal role in safeguarding the health and well-being of infants, setting the stage for early interventions and improved outcomes in managing SMA.
Q. When is a pregnant woman recommended for prenatal screening for SMA? Briefly explain this test.
Tests like prenatal screening can be done during pregnancy to determine if the foetus has Spinal Muscular Atrophy (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 screening is typically offered to couples who have a higher risk of having a child with SMA due to a family history of the condition or other risk factors.
Q. How is Spinal Muscular Atrophy (SMA)managed or treated?
Early diagnosis is essential to start interventions as soon as possible. Early detection through pre-natal 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. Prenatal screening that is done during pregnancy helps determine if the foetus has SMA. If the foetus is identified as having SMA, parents are able make informed decisions about the pregnancy or plan for appropriate care. Newborn screening for SMA is performed shortly after the birth of a child to identify if he/she has SMA.
Treatment options for SMA (Spinal Muscular Atrophy) are available. These treatments primarily target the underlying cause of SMA, which is a deficiency of the survival motor neuron (SMN). If, administered early, these treatments hold the potential not only to enhance the quality of life but also to extend the lifespan of even SMA type 1 patients, which is the most severe form of SMA with a typical life expectancy of less than two years. Early intervention with these treatments can significantly impact the progression of the disease and improve the overall well-being of the affected individuals.
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The management and treatment of SMA typically involves a multidisciplinary approach aimed at maximizing quality of life, maintaining function, and addressing the specific needs of everyone. As SMA can affect the muscles involved in breathing, respiratory support might be necessary. Ensuring adequate nutrition is also vital for individuals with SMA to maintain their overall health and strength. Since SMA is complex regular monitoring and close collaboration with a team of healthcare professionals, including neurologists, pulmonologists, physiotherapists, and nutritionists, are essential to optimize the management of SMA and provide the best possible care for those affected by the condition.
Q. Is SMA (Spinal Muscular Atrophy) curable?
SMA is considered not curable, as no treatment can eliminate the underlying genetic cause of the condition. SMA is a genetic neuromuscular disorder caused by mutations in the SMN1 gene, which leads to a deficiency of the survival motor neuron (SMN) protein. However, significant progress has been made in the management and treatment of SMA. There are disease-modifying therapies available that can effectively slow down the progression of the disease, improve motor function, and significantly impact the quality of life for individuals with SMA.
Q. Your thoughts on government initiatives to fight SMA, specially the NPRD policy?
The government’s National Policy for Rare Diseases (NPRD) represents a commendable stride in the right direction. It notably emphasizes newborn screening as a secondary prevention method, where infants undergo screening shortly after birth, even before the disease symptoms manifest.
In line with this vision, the Department of Biotechnology (DBT) has introduced the UMMID Initiative, firmly advocating that ‘Prevention is better than Cure.’ This initiative sets up NIDAN Kendras within Government Hospitals, offering a wide array of services, including counselling, prenatal testing, diagnosis, and comprehensive multidisciplinary care for individuals and families affected by genetic diseases. The Initiative also encompasses screening programs specifically designed for pregnant women and newborns, with a special focus on hospitals situated in aspirational districts.
However, despite the government’s efforts to formulate policies, the real challenge lies in their effective implementation to create a meaningful impact on the lives of SMA-affected patients. In India, the absence of comprehensive policies and specialized care infrastructure hinders timely diagnosis, access to life-changing therapies, and essential support systems. Till now, only a few patients have received treatment under NPRD. The crucial solution lies in establishing a comprehensive policy framework. We hope that government interventions will genuinely transform the lives of patients and their caregivers, bringing them much-needed support and positive change.
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