New Delhi: Madhukar Rainbow Children’s Hospital, a prominent pediatric and maternity hospital in Delhi, published their success in treating case of Spinal Muscular Atrophy (SMA), a congenital genetic disorder that primarily affects the nervous system and spinal cord, predominantly involving the nerves. In early onset cases, the child is not expected to survive more than 2-3 years.
The infant had progressive weakness of both upper and lower limbs since the age of 3-4 months, as well as increasing breathing difficulty due respiratory muscle weakness. Even though there was no family history of the disease, the clinical suspicion of SMA was confirmed by Genetic testing. This case highlights the possibility of genetic disorders occurring without a family history. The importance of carrier testing for common genetic disorders in prospective parents for such disorders needs emphasis.
The Neurology team provided oral medication, which is a gene modifying drug, under supervision, and the parents were trained to administer the medication at home. Additionally, proper feeding methods and airway management techniques were explained to the parents by the pulmonology team. Regular monthly checkups were scheduled for the patient’s ongoing care.
The child has improved significantly, and his respiratory problems are settled. He is also able to sit up for long periods because of better muscle power, something he was not expected to do without the drug.
SMA is a complex, progressive, and rare disease that makes treatment challenging. However, there has been significant progress in recent years, with new treatments having the potential to significantly improve the lives of people with SMA, provided treatment is started early in the course of the illness.
Dr Chandra Sekhar Singha, Senior Consultant, MBBS, MD, Pediatric Critical Care, stated, “Genetic disorder therapies are effective, but their high costs make them difficult to access in developing nations. In these cases, traditional genetic methods like carrier screening and prenatal diagnosis become essential. These methods provide couples with the information they need to make informed decisions about having children while dealing with SMA.”
Dr Rekha Mittal, Senior Consultant, Pediatric Neurology, stated, ‘Investing in research, reducing treatment costs and increasing greater awareness in the general population is truly a need of the hour. These three keys are crucial to early treatment, and help to better the quality of life and help save the affected kids and their families”
Raising awareness about SMA is crucial for earlier diagnosis and treatment, increased support for research, and reduced stigma and discrimination. Early diagnosis can help in providing timely treatment and management of the condition, which can significantly improve the quality of life of people with SMA. Increased support for research can lead to better understanding of the disease and development of new treatments. Reducing stigma and discrimination can help in creating a more inclusive society for people with SMA.
