A two-year-old boy from Bengaluru battling Spinal Muscular Atrophy (SMA), a debilitating genetic disorder, has received a lifeline thanks to timely intervention by the state health minister. The Karnataka health minister secured a lifetime supply of a crucial drug for the child's treatment.
Inspired by this case, Health Minister Dinesh Gundu Rao has announced plans to advocate for including SMA under the financial aid scheme for rare, high-cost diseases affecting Scheduled Caste and Scheduled Tribe (SC/ST) patients. He aims to optimise the use of allocated funds for such critical conditions.
Aryan Murthy Gets A 2nd Lease On Life
The affected child, Aryan Murthy, suffers from SMA Type 2, a progressive disease leading to muscle weakness and wasting, impacting mobility, breathing, and swallowing. Diagnosed earlier this year at Bangalore Baptist Hospital, Aryan's parents, Dr Nirnay Murthy and Dr Lalrinmawii Hmar, faced the daunting task of affording the Rs 48 lakh annual cost of the drug Risdiplam, a figure expected to rise to Rs 73 lakh as the child grows.
With the health minister's support, the Indira Gandhi Institute of Child Health and Care and Protection of Children Trust collaborated to provide Aryan with a lifetime supply of Risdiplam. The family is now focused on raising Rs 16 crore for the one-time gene therapy injection Zolgensma.
If you are wondering what SMA is, Dr Kiruthika S, MBBS, DCH, MRCPCH, Fellowship Pediatric Genetics, Consultant Clinical Geneticist, Salem Genetics Centre explained it in detail in a conversation with Onlymyhealth’s team.
What Is Spinal Muscular Atrophy?
Dr Kiruthika defined, “SMA is a severe genetic disorder affecting motor neurons, leading to progressive muscle weakness and paralysis. It’s caused by a mutation in the SMN1 gene, responsible for producing the SMN protein essential for motor neuron health.”
According to Johns Hopkins Medicine, SMA is a relatively common genetic disorder, affecting approximately one in 6,000 newborns. It's considered one of the leading genetic causes of infant mortality.
Spinal Muscular Atrophy Symptoms and Diagnosis
“SMA symptoms vary based on severity, ranging from muscle weakness at birth to milder forms with later onset,” said Dr Kiruthika. She shared that the common signs of SMA include:
- Difficulty breathing, swallowing, and feeding
- Weak muscles, particularly in the arms and legs
- Challenges with sitting, crawling, or walking
- Muscle tremors and bone/joint issues
Also Read: What is Spinal Muscular Atrophy? Know Its Causes and Importance of Early Diagnosis
“Diagnosing SMA involves a comprehensive evaluation, including muscle biopsies and genetic testing. Early diagnosis is crucial for accessing appropriate treatments and support,” said Dr Kiruthika.
Spinal Muscular Atrophy Types
She shared that SMA is classified into different types based on age of onset and severity:
- Type 1 (severe): Symptoms appear at birth or within the first six months, often leading to respiratory failure.
- Type 2 (intermediate): Symptoms develop between six and 18 months, with individuals typically able to sit but not walk.
- Type 3 (mild): Onset occurs after 18 months, with walking ability but potential challenges over time.
- Type 4 (adult-onset): Mildest form with symptoms appearing in adulthood.
Also Read: Spinal Muscular Atrophy Awareness Month 2023: Experts Explain Preventive Strategies For SMA
How Is Spinal Muscular Atrophy Treated?
While there’s no cure for SMA, Dr Kiruthika stated that recent advancements have brought promising treatments like:
- Risdiplam (Evrysdi): An oral medication that slows disease progression.
- Onasemnogene abeparvovec-xioi (Zolgensma): A gene therapy administered as a one-time infusion.
- Nusinersen (Spinraza): An intrathecal injection administered periodically.
These treatments, along with supportive care including physiotherapy, respiratory support, and nutritional management, can significantly improve the quality of life for individuals with SMA.
Disclaimer: This article provides a general overview of SMA. For personalized medical advice and information, consult with a healthcare professional.
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