Facioscapulohumeral Muscular Dystrophy
I am by no means an expert on this subject, but I do pose some first hand knowledge that I’d like to pass on. Though, to be honest, I find this post hard to write. I spend most of my time thinking of ways to make the best out of life, think positive, stay busy and enjoy the people and things around me. Science has the tendency of being brutally honest and writing this in ways, puts a damper on my day. But hey, i’m looking outside to a dark and gloomy, rainy February day. So why not!
FSHD is not as uncommon as you may think. FSHD has been estimated to affect 1 in ever 20,000 people world wide. to put that into perspective that would mean there are roughly 16,360 americans today that are affected.
One true oddity of FSHD, is that no 2 patients are the same. Let me explain. Symptoms of FSH can show at any point in someone’s life. Many cases show rear their head in the teen years, like mine. But for every case like mine there seems to be those who don’t show for half a lifetime. I’ve read of so many cases where people don’t experience any symptoms until their late 50’s. The severity of the condition are equally as diverse. Even within my own family, I can see those who are much older than me show symptoms but only mildly compared to my own.
So what are the symptoms? FSHD target a very specific group of muscles, leaving some muscle groups in their entirety alone. Lets be nerdy and break down the word (Hey! I’m married to a teacher, its the life I chose haha) Facioscapulohumeral Muscular Dystrophy.
Facio : Having to deal with the face. Predominantly the eyes and mouth. This is the point where anyone who knows me reading this goes “Yep!”. I’ve been characterized time and time again as the kid with the crooked smile. Don’t let that fool ya, I’m the last thing from crooked. The Facial weakness aspect of FSHD is one of the key diagnosis symptoms. Its often one of the first symptoms and it sets itself apart from other MD prognosis’.
Scapulo : Having to do with your scapular muscle. This muscle strikes across your back providing support and stability to the shoulder blade or scapula. when it atrophies you’ll see it begin to “Wing” out. and the ability to lift arms above your head will fade. I have had this surgically stabilized which greatly helped my quality of living. Subtle to anyone other than myself. But that stability i was lacking for years has been vital to me. That’ll have to be a future post. “Shout out to Dr Pat!”
Humeral : Although I have a great sense of humor and dad jokes for days, FSHD does not affect your humor. Instead this is referring to your humeral bone and the muscles around it. Your bicep and triceps. As I mentioned earlier, sometimes entire muscle groups are left alone. If I had a dime for every time I’ve been compared to popeye, I’d atleast have enough for one of those chicken sandwiches everyone’s fighting over! With the weakness in my biceps and triceps my body compensates for this with stronger forearm and hand muscles.
Those are just the key muscle groups, Other normal muscle groups effected are the are chest, abdominal and shins.
So what’s exciting is that the the nature and true cause of the condition has only recently been unlocked. Its a chromosomal passed down on X Chromosome. There is a gene called DUX4 which lies dormant in every human. A mutation in this gene cases an abnormal activation of the DUX4 gene. Once the gene is activated it breaks down proteins.
By unlocking the cause of FSHD the science world has take huge strides forward and we’ve scene the effects of FSHD stopped and reversed in the laboratory setting. Methods spaning from Gene editing and CRISPR to Gene therapy’ using pharmaceuticals.
Its hard not to get excited and ramble about what the future brings to the community but there will be more of that to come. I also do my best to keep these posts short and readable, so keeping that in mind I’ve gone ahead and attached a quick fact sheet that’ll give you everything I mentioned and more in much fewer words!
