Spinal muscular atrophy (SMA) is a hereditary sickness influencing the portion of the sensory system that controls the movement of voluntary muscles. The vast majority of the nerve cells that control muscles are situated in the spinal cord, which represents the word spinal given in the name of the ailment. The word muscular represents its main impact on muscles, which don’t get signals from these nerve cells. The word Atrophy is used to represent the decay of muscles when they are inactive. In this disease, there is a loss of nerve cells called motor neurons in the spinal cord and hence it is delegated as a motor neuron sickness.

What are the causes of Spinal Muscular Atrophy?

• Spinal Muscular Atrophy is an congenital disease.
• That means, if a child suffers from SMA, he might get two copies of a broken gene from each parent.
• Due to this, a specific kind of protein cannot be made in his body.
• This protein is named SMN which means Survival of Motor Neuron and it is essential for the normal functioning of motor neurons.
• If anyone has only one broken gene, then he will become a carrier of this disease and will pass this broken gene to his child in the future.

What are the symptoms of Spinal Muscular Atrophy?

• The most severe type of SMA is Type 1. The patient needs support for his head and sitting. Due to this type of SMA, the weakness level is so high in the muscles that the patients would not be able to breathe. That’s why children with this type of SMA don’t live more than two years of age.
• The type 2 SMA is called as chronic infantile SMA. The children of age 6-18 months are most affected by this type of SMA. This type usually affects the legs. The child affected with this type may walk, sit or stand with support.
• Children of age two to seventeen years are mostly affected by type 3 SMA. This is known as juvenile SMA. With this type of SMA, children can walk, sit and stand without any support. But they may not be able to run, climb or get up from the chair. They may need a wheelchair in the future.
• Type 4 SMA usually begins when you are an adult. The symptoms are like twitching, weakness of muscles or problem in breathing.

What do you mean by Spinraza?

• Spinraza is a medicine that works by supporting the body to produce a protein.
• This protein is essential for the proper function of nerves that control the movement of the muscle.
• People who are suffering from spinal muscular atrophy lacks this protein.
• This disease is caused by the mutation in a particular gene.
• This is an antisense oligonucleotide medicine, which is developed by Ionis Pharmaceuticals. This medicine has been approved by the US Food and Drug Administration.
• Spinraza is the medicine that is used to treat spinal muscular atrophy in adults, infants, and children.
• There are other purposes also for which Spinraza medicine is used.

What is the procedure to give Spinraza?

• Urine and blood tests are performed before starting this medication to make sure that the patient does not have any condition that would obstruct you from taking the medication.
• Spinraza is generally used as injections, which are directly infused in the fluid around the brain and the spinal cord.
• This injection is given by a specialist.
• For the completion of this injection, it takes about 1 to 3 minutes.
• A sedative might be given to you during this injection to make you calm and comfortable.
• For this treatment procedure, you are given a set of four loading dose injections.
• Within two weeks, the first three doses of injections are given and then the fourth dose will be given after one month.
• Every four months, maintenance dose will be given.

What to do in case of any irregular dose of Spinraza?

• If you miss any dose of this injection, call your medical provider to reschedule your appointment so that there will be enough time between two doses.
• An overdose of this injection is not possible as this injection will be given by a medical provider in a proper medical setting.

Consult your doctor for any sign of this disease in your child if you were the carrier of this disease.