: A child can be born with Spinal Muscular Atrophy (SMA), a rare genetic disorder, even when both parents appear completely healthy. The condition is caused by changes or mutations in the SMN1 gene, which is responsible for producing a protein essential for the survival and functioning of motor neurons. In most cases, SMA follows an autosomal recessive inheritance pattern, meaning a child may develop the disease when both parents carry a defective copy of the gene and pass it on. Since carriers generally show no symptoms, families may have no prior indication of the genetic risk. Recognising the Symptoms Early SMA affects the nerve cells that control voluntary muscles, leading to progressive muscle weakness. Depending on the type and severity, symptoms may include reduced muscle tone, difficulty holding the head up, delayed sitting or walking, weak movements, difficulty swallowing and breathing problems. In severe cases, symptoms can appear during infancy, while milder forms may become noticeable later in childhood or adulthood. Early diagnosis is important because the disease can affect mobility, feeding and respiratory function. Diagnosis and Treatment Options Genetic testing can confirm SMA by identifying changes in the SMN1 gene. Treatment options include disease-modifying therapies such as nusinersen, risdiplam and onasemnogene abeparvovec, a gene-replacement therapy. The latter is among the most expensive treatments, with its cost often reported at around ₹17 crore, although the actual price and access arrangements may vary. Along with medical treatment, patients may require respiratory support, nutritional care, physiotherapy and regular monitoring. Genetic Counselling Is Important Experts emphasise that carrier screening and genetic counselling can help families understand the risk, particularly when there is a family history of SMA. Prenatal testing and newborn screening may also help identify the condition early. Timely diagnosis and access to appropriate treatment can make a significant difference to the management of the disease and the child's quality of life.
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