SMA and the drug that fights it, explained

[@nusaibamohammed665]

Am so proud with such a treatment and I hope my son whose also diagnosed with SMA1 could be treated with spinraza , he's 3 years now and we are suffering from the impact of the disease emotionally and financially and living in a developing country with such a disease is a struggle. Am always praying for him and for a chance of proper treatment.

[@maryhahn6176]

This video is GREAT!!! I do have one question though: at about 2:00 it sounds like you are saying that the cause of SMA is that exon 7 gets skipped in SMN2 gene. However, I was under the impression that in ALL people, whether healthy or afflicted with SMA, exon 7 is always skipped in SMN2 gene. Instead, I thought SMA is actually caused by a mutation in SMN1. The mutation in SMN2 is therefore relevant to SMA bc the end result is that SMN2 is not an adequate source of compensatory protein when SMN1 gene is lost. Do I understand this correctly? Thanks!

[@kalaivanimanibarathi5945]

Yes... i think exon 7 is always skipped in SMN2 ...but in healthy people we have more SMN produced from normal SMN1 gene...in SMA patients the SMN1 is deleted or mutated so major production of SMN from SMN1 gene is lost...so i think they try to improve patients with this condition by avoiding the exon7 skipping in SMN2 gene to produce some SMN...

[@p.pandeeshwariramesh7022]

Why suddenly increased SMA type patient's? Everyday I see more than 2 babies affected by SMA Type.

[@TrevorKingKwong]

Thanks so much for this video. I have a question: how long does treatment need to last? Is it a lifelong process, since the SMN2 gene can't produce the SMN protein by itself? In other words, for someone with SMA, will the 7th Exon always be skipped during RNA splicing no matter how much nusinersen the individual receives?

[@AmberWeise]

Trevor Ding-Jun Kwong it is a lifelong treatment