HYDERABAD: A costly cure for the rare neuromuscular disease, Spinal Muscular Atrophy, plagues parents across the country. The disease, which largely affects children, leads to loss of motor neurons and muscle wasting that causes early death. The disease largely affects infants from six months of age who are robbed of their ability to speak, walk or eat. Dr Sudhir Kumar, a neurologist, says, “I see one patient suffering from SMA every two months. There are four types of the disease. While the first three affect infants, the fourth type affects adults. The first two conditions cause rapid neuron death and inability to walk respectively. Both conditions affect children aged between 6 and 18 months, who normally develop respiratory problems and do not survive.”
The disease is caused by a mutation in the SMN1 gene that is mutated in such a way that the correct coding of the PMN protein is not possible. “This genetic disease is caused due to marriage between close relatives and some children are affected by it even after 10 years of age,” says neurophysician Dr Sandeep Nayani. “In these cases, it is not terminal but it largely affects their mobility, leaving these children confined to a wheelchair or bed, as most of them are unable to even sit up.” Nusinersen (Spinraza) is the only drug approved by the Food and Drug Administration (FDA) to treat the disease. It is administered directly to the central nervous system using an injection.
The medicine is very expensive because it is imported and not available in India, so doctors advise patients to undergo physiotherapy because that can help in delaying the disease. There have been repeated pleas and petitions to make the medicine accessible in India, but there has been no action on this as yet. “I have seen trials of the medicine in Europe and it rectifies genetic mutation which is an innovative method of treating the disease. The results can be seen when children achieve milestones such as going to playschool, standing, walking and others. However, the medicine would cost lakhs of rupees if brought to India and so is not used here,” says Dr Kumar.
Dr Rajesh Ravi, a neurologist says, “This disease is an inherited disorder and a lot of talk has been going on about developing an affordable medicine. Early diagnosis is always helpful. “Pregnant women should record absent or reduced foetal movements. Small children often adopt a foreleg position while sitting, and loss of strength of respiratory muscles is seen when the child coughs or cries.”
