Experts Illuminate Preventive Strategies for Spinal Muscular Atrophy During Awareness Month

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Pune, 11 August 2023: August marks Spinal Muscular Atrophy (SMA) Awareness Month, a significant occasion for spotlighting awareness, advancing research, and engaging in discussions about preventive tactics for this rare genetic disorder. SMA entails the gradual weakening of motor neurons, leading to muscle deterioration and, in severe cases, life-threatening complications. In an effort to emphasize the criticality of preventive actions, we engaged in dialogue with two distinguished authorities in the realm.

Unraveling Spinal Muscular Atrophy
SMA, a genetic affliction that impacts motor neurons, induces progressive muscle debilitation, and, in graver instances, poses life-threatening risks. The Centers for Disease Control and Prevention (CDC) approximates that SMA affects about 1 in 10,000 individuals.

Empowering Preventive Strategies for SMA
Effective management of SMA necessitates a proactive approach to preventive measures, chiefly directed at the early identification of carriers and afflicted infants.

Genetic Screenings for SMA
Dr. Alpana Kondekar, a Pediatric Neurologist and Associate Professor at TN Medical College & Nair Hospital, Mumbai, underscores the significance of genetic screenings. “Genetic screenings provide a valuable tool for pinpointing SMA carriers. This proactive method empowers prospective parents to gauge their carrier status and make well-informed decisions about family planning, particularly when there’s a familial history of SMA. By detecting carriers early, we can implement interventions and extend the necessary support to families.”

Newborn Screening for SMA
Dr. Alpana highlights the implementation of newborn screening in various regions of India. This involves testing specific genetic markers shortly after birth to identify SMA in infants prior to the manifestation of symptoms. Early screening facilitates timely intervention and management of the disorder.

Antenatal Screening for SMA
Antenatal screening plays an indispensable role in enabling prospective parents to ascertain their carrier status. By testing both parents, the genetic mutation linked to SMA can be identified. If both parents are carriers, prenatal screening becomes pivotal. This empowers families to make informed choices and access the requisite medical care and support.

Early Intervention for Enhanced Outcomes
Dr. Siddharth Shah, a Consultant Pediatric Neurologist and Epileptologist at the Royal Institute of Child Neurosciences, Ahmedabad, accentuates the primacy of early intervention. “Commencing therapy within a child’s initial weeks or months can safeguard motor function, bolster respiratory assistance, and potentially ameliorate long-term outcomes. A holistic approach, encompassing physical therapy, respiratory aid, and nutritional oversight, holds a pivotal role in optimizing the quality of life for SMA-affected individuals.”

Promoting Awareness and Government Endeavors
Amplifying awareness among healthcare practitioners, expectant parents, and the general populace assumes paramount importance. Government initiatives such as the National Policy for Rare Diseases (NPRD) and the UMMID Initiative underscore the significance of preventive strategies. These initiatives advocate for early identification and timely intervention, thereby contributing to improved outcomes for those grappling with SMA.