Share this post on your profile with a comment of your own:

Successfully Shared!

View on my Profile
Back to Homepage

Pediatric Neurology – Spinal Muscular Atrophy

October 17, 2021


Another disease that’s on the press a lot is something called spinal muscular atrophy. And spinal muscular atrophy, the most common form starts off in babies. And these babies are fine when they’re born, but develop progressive weakness of their nerves and muscles from the spine. And these children in the past, back when I started, basically were either intubated by age one or two, or died by age one or two, because the muscles that affected their breathing were impaired and they couldn’t breathe and therefore would not make it. Now, there’s been a whole slew of treatments for this. There are medications that are given in the spinal canal, and now there’s one that’s given by mouth that can improve this disease markedly. And even more amazingly, about two or three years ago, the FDA approved a gene that can be inserted into improve the disease, curing not all but many patients. So now there’s a potential cure that is being done at Downstate. It’s an infusion of the normal gene that actually will make this disease essentially go away. This coupled with the fact that the state of New York tests for spinal muscular atrophy, they do a gene test at birth on all children, will allow early treatment and cure of this disease.

Send this to a friend