A guide for parents to identify and manage SMA

Eminent experts in the state have put an impetus on the need to highlight the significance of spreading awareness about the symptoms of Spinal Muscular Atrophy (SMA) and management strategies to mitigate its impact on patients and their families. SMA is a genetic condition characterized by the loss of motor neurons, leading to progressive muscle weakness and, in severe cases, life-threatening complications. To address the condition effectively, it is crucial to focus on addressing its symptoms through a multidisciplinary approach.

It is crucial to raise awareness among healthcare professionals, expectant parents, and the public about rare diseases and SMA so that they’re able to identify potential health issues early on and promptly ensure that the patients receive the necessary care.

Dr. Ramesh Konanki, Consultant Pediatric Neurologist at Rainbow Children’s Hospital, Hyderabad mentioned how “Children who have noticeable SMA symptoms shortly after birth usually are very weak. Parents should be aware of the common symptoms of Spinal Muscular Atrophy (SMA) that can sometimes be mistaken for other conditions. Infants with SMA may exhibit muscle weakness, especially in the legs and arms, which can be confused with general developmental delays or benign congenital hypotonia (floppy baby syndrome). The limbs of infants with SMA feel very loose/floppy. Poor muscle tone, characterized by ‘floppy’ limbs, can also be seen in conditions like Down syndrome.”

“Delays in rolling over, sitting, crawling, and walking are common in infants with SMA and might be misinterpreted as normal variations in developmental timelines or attributed to less severe developmental disorders. Feeding difficulties, such as trouble swallowing and sucking, can also occur due to muscle weakness in the throat and tongue, and misattributed to feeding disorders. Weakness in the respiratory muscles can lead to rapid or shallow breathing and recurrent respiratory infections, which might be mistaken for chronic respiratory conditions like asthma or bronchitis. Additionally, generalized fatigue and decreased energy levels might be interpreted as typical infant lethargy or attributed to less specific causes like anaemia or metabolic disorders”, added Dr Ramesh, in order to shed more light on the symptoms of SMA.

The management and treatment of SMA typically involve 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.

Emotional support is equally crucial in the management of SMA. This can include access to support groups where patients and families can share experiences and resources, as well as counseling from professionals experienced in chronic illness.