Spinal muscular atrophy or SMA is a disease that is triggered by the breakdown of nerve cells in the brain and the spinal cord. This, in turn, affects the brain’s ability to transmit messages that control the movements of the muscles. It is most likely to affect babies and young kids, making it difficult for them to use their muscles effectively. Due to the lack of muscle movement, they become weak and shrink. The child also finds it difficult to control head movements or sit and walk without support. Progression of the disease also brings with it the risk of trouble with breathing and swallowing.
The severity of the disease depends on the type of SMA a patient has. One may experience limitations in movement, but it does not affect behavioral or cognitive development. SMA is an incurable disease, but there are some treatments and therapies that help in reducing or managing the symptoms. They also aid in increasing the life span of the patient.
Nusinersen: Nusinersen is a medication used to slow down the progression of SMA and helps make the patient stronger. It involves the injection of a shot into the fluid present around the spinal cord. This treatment procedure can take more than two hours for completion, and the number of shots will depend on the type of SMA one has. This gene therapy works by regulating or adjusting the SMN2 gene for an increase in the functional SMN protein. Nusinersen is the only FDA-approved medication for this disease at present.
Physical therapy: Physical therapy is employed to help in maintaining muscle strength while increasing the range of motion. A physical therapist will customize this kind of therapy according to the patient’s needs. The program usually includes a combination of exercises, and it must be monitored and changed regularly to suit the patient’s current condition. Without supervision, it can cause more harm than good.
Breathing aid: SMA is a disease that leads to the weakening of the muscles in the ribs, and this causes difficulty in breathing. A patient may have to use ventilation for support with breathing. The ventilation solution may either be employed with an invasive or non-invasive technique.
Nutritional therapy: SMA affects the function of the jaw and throat muscles, causing difficulties in swallowing. As a result, the patient may not receive adequate nutrition, and this can lead to development issues. So, nutritional therapy may be used to regulate the diet and manage nutritional problems.