Spinal Muscular Atrophy or SMA often affects babies and children. This disease makes it quite difficult for them to make use of their muscles, as there is a breakdown of nerve cells in the brain and spinal cord. As a result, the brain stops sending messages that control muscle movement. When this happens the child’s muscles get weak and they shrink. The child then faces difficulties with sitting down without help, controlling the movement of his/her head and even walking. There is no cure for Spinal Muscular Atrophy but there are treatments that can help to improve some symptoms and in some cases help the child live longer. This disease can also prove very difficult to diagnose as the symptoms may be similar to other conditions.

There are only two FDA approved medications available in the market that helps to treat Spinal Muscular Atrophy. They are Nusinersen (Spinraza) and onasemnogene (Zolgensma) which are both forms of gene therapy that affect the genes involved in Spinal Muscular Atrophy. These genes give your body instructions for making a protein that essentially helps with controlling muscle movement.

Nusinersen
This medicine used as a treatment option for spinal muscular atrophy helps to adjust the SMA gene thereby helping it to make more protein; it can be taken by both children and adults. This is not a medicine that can be taken orally but it has to be injected into the fluid around the patient’s spinal cord. The whole process can take about two hours to be completed and it needs to be done several times, followed by another dose every four months. According to studies, 40% of the people using this medication have gotten much stronger and there has been a noticeable recovery and slowing down of the symptoms of the disease. However, people treated with Nusinersen have experienced an increased risk of upper and lower respiratory infections and congestion, ear infections, constipation, scoliosis, and pulmonary aspiration.

Onasemnogene abeparvovec-xiaomi
This drug is also similar to nusinersen but it can be used only for children under two years of age. This is administered as an IV that is sent in through a tiny tube called a catheter directly into the child’s vein in his/her arm or hand. Then a copy of the spinal muscular atrophy gene is sent through the tube into a specific group of motor neuron cells. This treatment option for spinal muscular atrophy, however, unlike the previous one needs to be done only one time. Studies have shown that onasemnogene abeparvovec-xiaomi has helped children with Spinal Muscular Atrophy reach certain developmental milestones faster. Some of these milestones include controlling the movements of their heads and sitting without support. It is also worth noting that this is the first gene therapy that has gotten approval for SMA in the country quite recently. The most common side effects of this medication include vomiting and increased liver enzymes. Some of the more serious side effects may include liver problems, heart damage, and low platelets. Onasemnogene abeparvovec-xiaomi is also the most expensive medication in the world.