Spinal Muscular Atrophy — A genetic disorder

When Rekha found out that she was pregnant with Rakshit, she had all the emotions and anxiety that any first-time mom would have. At birth, Rakshit appeared to be perfectly healthy, but three weeks later he developed a blocked tear duct. A genetic test revealed that Rakshit was positive for Spinal Muscular Atrophy (SMA) Type 1, one of the most severe forms of the disease that can be fatal within a few years if left untreated, leaving Rekha and her husband devastated.

At birth, many SMA patients are typically healthy. They lack a single gene, though, which governs the synthesis of a protein necessary for locomotion. As the patients age, their muscle strength begins to become weak and they gradually lose their capacity to walk, stand, or move independently. SMA is a rare disease that affects one in every 10,000 live births worldwide and one in every 7,744 live births in India.

Dr M Pradeepkumar, Consultant Clinical Geneticist at Kovai Medical Centre and Hospital says that SMA is described by a broad range of impairments resulting from SMN1 gene defects, including breathing difficulties at birth and mild weakness as an adult.

“All SMA babies are ‘floppy’, and they may never learn to control their neck, roll over, or sit up when they shoul,” he said.

Early detection

The effectiveness of treatment would improve with earlier disease detection. Clinical investigations have shown that pre-symptomatic treatment with disease-modifying drugs in SMA with genetic proof offers the greatest outcomes.

Genetic Diagnosis: A genetic test is the primary way to diagnose SMA. The laboratory tests can determine whether an infant or child inherited mutant SMN1 genes from their parents

Treatments: SMA used to be fatal in the infantile age group and had no known remedy. The life course of children with SMA has been fundamentally altered by the discovery of few disease-modifying medicines in recent years. ‘Risdiplam’, launched by Roche Therapeutics in India in July 2021, is the first and only approved medication for SMA patients in India. Meanwhile, ‘Nusinersen’ also helps by increasing the SMN protein levels in the body.