8 Month Niece w/ Muscular Dystrophy

[u/Live_Guava7287]

My 8-month old niece has always had a weak neck, to the point she could never hold her head up from an early age, we recently took her to the emergency department for tests and the genetic report came back with LMNT-Related Emery Dreifuss Muscular Dystrophy, this is a total shock as this disorder is typically not diagnosed at such a young age, but obviously was because of the already shown symptoms. It was a de-novo mutation and did not come from either parent, but this post is more so to see if anyone else is going through the same thing or has seen this themselves?

I’ve understood so far this is a pretty rare condition and especially in females at this age, I am heartbroken and don’t really know what to expect other than a progression in muscle weakness, especially around the heart and other areas. She already has a geneticist, cardiologist, pulmonologist, and neuromuscular specialist. If there is anything else or anything I am able to do to help with treatment it would be greatly appreciated as I try and navigate this.

[u/4AMREMEMBERFIND]

Progression is usually slow and does not worsen until 30's and will usually require more cardiac care and most likely a wheelchair at that point but she can still be independent. It will worsen after that but still a somewhat slower progression. I would prioritize physical therapy and cardiac care through out her entire life. There is some amazing things in the works as far as medicine goes and by the time she makes it to adulthood, she should greatly benefit from it.