Twelve Surprising facts about
SMA that you need to know

1. Spinal Muscular Atrophy (SMA) is a genetic disease where the SMN1 gene, which produces SMN protein used by neuron cells to communicate with body muscles, is defective. This leads to impaired coordination between the brain and muscles.

2. There is no known cure for SMA. The available drugs and therapies only help to manage the disease.

3. Zolgensma, a medicine developed for Spinal Muscular Atrophy (SMA), is the most expensive medicine ever developed for any disease. One dosage costs Rs 17 cr.

4. There are four types of SMA. These are classified as SMA 1, SMA 2, SMA 3 and SMA 4. SMA 1 is the most common.

5. SMA affects only muscle movements. Children suffering from just SMA do not have any mental incompetencies.

6. Zolgensma is not approved for usage in India. However, patients can import it with the recommendation of doctors and prior permission from the government.

7. The muscle group most impacted by Spinal Muscular Atrophy (SMA) are those which are closest to the centre of the body. These are the shoulder, hips, thighs and upper back.

8. On average 1 in 50 people globally are carriers of the defective SMN1 gene. However, in India this number is estimated to be 1 in 38, making Indians far more vulnerable to SMA.

9. Endogamous marriages, i.e. marriages within a caste, community, or region, are considered to be one of the key reasons for the higher prevalence of SMA defective gene in India.

10. If both parents have the defective SMN1 gene then their children have a 25% chance of having Spinal Muscular Atrophy (SMA).

11. If one parent has a defective SMN1 gene then their children will most likely not get Spinal Muscular Atrophy (SMA). However, there is a 50% chance that they will be carriers of the defective SMN1 gene.

12. SMN2 is a backup gene in the body which also produces SMN protein. This property is used by the drug Spinraza to care for SMA patients.

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