Every year, the month of August is observed as Spinal Muscular Atrophy (SMA) Awareness Month. This designated time serves as an important opportunity to raise awareness about this rare genetic disorder, promote research efforts, and discuss the urgent need for preventive strategies. We spoke to two prominent experts to learn more about the preventive strategies to address SMA.
What is Spinal Muscular Atrophy?
SMA is a genetic disorder marked by the deterioration of motor neurons, resulting in gradual muscle weakness, and severe situations, life-threatening complications. According to the Centers for Disease Control and Prevention (CDC), this genetic disorder affects approximately 1 out of every 10,000 people.
Addressing Spinal Muscular Atrophy
Effectively addressing this condition requires a strong focus on preventive measures aimed at promptly identifying carriers and affected infants.
Also Read: What is Spinal Muscular Atrophy? Know Its Causes and the Importance of Early Diagnosis
Genetic Screenings for Spinal Muscular Atrophy
Dr Alpana Kondekar, Paediatric Neurologist and Associate Professor, TN Medical College & Nair Hospital, Mumbai said, “Genetic screenings are an invaluable tool for identifying SMA risk. These preventive tools empower prospective parents to understand their carrier status and make informed decisions about family planning, especially when there is a history of SMA in the family. By identifying carriers early on, we can implement necessary interventions and provide adequate support to families.”
Newborn Screening for Spinal Muscular Atrophy
“In various parts of India, newborn screening has been implemented, involving the testing of specific genetic markers shortly after birth to identify SMA in infants even before symptoms manifest. This early screening aids in timely intervention and management of SMA,” she added.
Antenatal Screening for Spinal Muscular Atrophy
“Antenatal screening stands as a crucial preventative strategy, empowering prospective parents to determine their carrier status. By testing both parents, it becomes possible to ascertain whether they possess the genetic mutation linked to SMA. If both parents are carriers, the focus shifts to prenatal screening. This empowers families to make informed choices and access appropriate medical care and support,” explained Dr Alpana.
Early Intervention Helps Outcomes for Spinal Muscular Atrophy
Dr Siddharth Shah, Consultant Paediatric Neurologist and Epileptologist, Royal Institute of Child Neurosciences, Ahmedabad said, “Early intervention and timely treatment are crucial in shaping the prognosis and outcomes for individuals with SMA. Initiating therapy within the initial weeks or months of a child’s life can help in preserving motor function, improving respiratory support, and potentially enhancing long-term outcomes.”
“Additionally, adopting a comprehensive approach by coordinating supportive treatments like physical therapy, respiratory assistance, and nutritional management plays a pivotal role in optimising the quality of life for individuals affected by SMA,” he added.
Also Read: Hirayama Disease: Know All About This Rare Disease From Neurosurgeon
Awareness and Government Interventions
To address the urgent need for the adoption of preventive strategies, it is crucial to raise awareness among healthcare professionals, expectant parents, and the public. The government’s National Policy for Rare Diseases (NPRD) is a positive move forward.
It highlights newborn screening as an excellent example of secondary prevention, wherein infants are tested shortly after birth, even before any disease symptoms manifest. This early identification of potential health issues allows for swift initiation of treatment, effectively averting both morbidity and mortality risks.
Furthermore, the Department of Biotechnology (DBT) has introduced the UMMID Initiative, rooted in the belief that ‘Prevention is superior to Treatment’. This initiative strives to create NIDAN Kendras within Government Hospitals, providing services such as counselling, prenatal assessments and diagnoses, holistic management, and extensive multidisciplinary healthcare.
The goal is also to nurture a group of proficient clinicians who specialise in Human Genetics, to cater to the increasing need for genetic healthcare services. Additionally, the initiative aims to execute screening campaigns for expectant mothers and neonates, aiming to pinpoint hereditary genetic conditions in hospitals situated in aspirational districts.
[Disclaimer: This article is for informational purposes only. Consult your healthcare provider to get a thorough diagnosis and treatment as per your health needs.]
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