An infant diagnosed with Spinal Muscular Atrophy at five weeks received crucial early treatment from doctors (Representative image)
The infant, who weighed 6.8 kg at the time of treatment, was started on risdiplam, a disease-modifying drug, soon after genetic testing confirmed the diagnosis.
Doctors said timely intervention is crucial in SMA, as the condition can cause irreversible loss of motor neurons, the nerve cells that control muscle movement. Dr Prabhudev M Hiremath, paediatric neurologist at Aster CMI Hospital, said the diagnosis at five weeks allowed doctors to initiate treatment early while the child was evaluated and prepared for gene therapy. Disease-modifying therapies have significantly changed the treatment landscape for SMA, he said, with earlier intervention generally associated with better motor outcomes. Doctors said the case highlights the importance of recognising early signs, conducting appropriate genetic testing and ensuring timely access to treatment.
BENGALURU: In one of the early-diagnosis cases of Spinal Muscular Atrophy (SMA), a rare genetic disorder that causes progressive muscle weakness, an infant diagnosed at just five weeks of age received gene replacement therapy at seven months. Early identification of the condition enabled doctors to initiate treatment promptly, offering the child a better opportunity to preserve motor function and achieve developmental milestones. The baby subsequently received onasemnogene abeparvovec, a one-time gene replacement therapy designed to address the underlying genetic defect by delivering a functional copy of the SMN1 gene. “This was truly a race against time. Early clinical suspicion and appropriate genetic testing allowed us to start risdiplam and supportive care without delay, while our team worked swiftly to make gene therapy available. Administering treatment early offers the best opportunity to preserve motor-neuron function and support future motor development. The treatment, administered at Aster CMI Hospital, Bengaluru, came with a significant financial challenge. Gene replacement therapy is among the most expensive treatments available, putting it beyond the family’s means. The family turned to crowdfunding, which drew contributions from people with no personal connection to them, helping make the treatment possible. SMA is most commonly caused by abnormalities in the SMN1 gene, resulting in insufficient levels of survival motor neuron (SMN) protein, which is essential for motor-neuron survival. As these nerve cells are progressively affected, infants can develop muscle weakness and struggle to achieve milestones such as holding their head up, sitting and moving independently. Severe cases can also affect swallowing and breathing. early diagnosis and intervention offer an important opportunity to preserve motor function and support the child’s development While gene therapy does not eliminate the need for continued medical care and monitoring.