Muscle Owl Talks Episode 15: World Limb Girdle Awareness Day

By: Muscle Owl

Hey guys, it's episode 15 of Muscle Owl talks, and this is a really quick episode that we just thought we'd do, because it's World Limb Girdle Awareness Day. Obviously limb girdle is one type of muscular dystrophy that really doesn't get talked about quite a lot actually, but it seems to be - certainly from my perspective - quite widespread and quite a wide variety too. I think there are over 30 different subtypes all together. And then there are people like you, Zoe, who, you have a subtype that you don't you don't actually know what it is! You once described it as a 'mystery meat subtype'! - Yeah, that's what I am! - Do you want to describe a little bit about little bit about limb girdle, from your perspective, and how you view the condition on the whole? - Yeah, sure! Obviously as you say, there are many different types so it does vary, and even in type, it varies from person to person, but for me, while I don't have a specific diagnosis, I know that it's definitely type2 rather than type 1 so that's a good start! And type1 is a lot rarer and generally more severe. I was diagnosed when I was ten years old and it was actually just because I'd started to have a bit of difficulty getting up from the floor. We'd been skiing and when you ski, you fall over a lot, and it was getting more difficult for me to get up, and so my parents sent me to a doctor who initially thought that I had meningitis - which is a lovely diagnosis to receive as a parent, I'm sure! Then we quickly realized I didn't have meningitis, and eventually after going to a few different specialists, and then we started to understand that it was probably muscular dystrophy, and then we did a few more tests biopsies, before they finally settled on it being limb girdle. So as I say, it's been 15 years and they still haven't really managed to work out exactly what type it is.

- Yeah. - Limb Girdle is kind of... It has weird symptoms in that it is very very localized so it only affects very very specific muscles and those are the ones around the shoulders and the hips. The girdles!? I don't even know if that's officially what the name is! - Your GIRDLES! - My girdles! So most of most of the body is unaffected but because these are quite substantial muscle groups it still does impact your ability quite substantially.

But it's different for different types, though it's always the same set of muscles affected, but there are plenty of people with limb girdle who don't need to use wheelchairs, or it doesn't onset until they're in their 40s or 50s even sometimes. And then there are some who have it from quite an early age, and much more severe, like me. It was always quite funny though whenever I go to the doctors, because they like to have medical students view me because it's quite a weird condition that they've never come across before, and they're always incredibly amazed at how localised it is.

And the fact that I still have full range of function in my hands and my wrist... They're like, "How does it work?!" And that is very typical of limb girdle. It is that these specific muscles are very weak, and therefore a lot of me is very weak. But actually the rest of my muscles are fine. They just don't get to do very much most of the time, because I'm just sat here like a lemon! So that is essentially my experience of it. After I was diagnosed, I then started to deteriorate, and when I was 16 I started using wheelchair for long distances, and then when I was 18 I started using a wheelchair permenantly. So it kind of deteriorates to a certain extent and then I guess it plateaus because you get to the point where there's not really much more that you can not do with your muscles. So I'm hoping that now I'm at a stable state, but you never know what you get with these kind of things.

Muscle Owl Talks Episode 15: World Limb Girdle Awareness Day

It could be that one day I wake up and I can't do something new. But at the moment, it's been pretty all right for about 5 years, so that's not bad. - That's quite interesting that you say diagnosis was at ten, because I tend to think of limb girdle as something that is diagnosed like a really long time before... Or, I don't know... I guess we know guys like Martin Hywood, who's slowly losing the ability to walk at the age of 40 or whatever, and then, so I kind of think of people who are using a wheelchair permanently at the age of sixteen, seventeen, eighteen, I kind of just assume that the diagnosis is almost like when they're four, five, six - almost similar to when people are diagnosed with Duchenne muscular dystrophy.

- Yeah, it is very different, as I say. There was nothing particularly noticably different about me until we got to that point. I did all the sports, I did all the things.... Karate and gosh knows what else..

Camping, skiing, all the normal stuff, and it was never noticeable that there was anything different about the way that I would do things and then after that, they started to see deterioration. And as with a lot of degenerative conditions, once one thing goes then things start to topple quite quickly after that just because your muscular just starts to change. But yeah, until that point, there was no kind of indication... There's nothing in my family, I was a complete anomaly, a complete surprise when I got the diagnosis.

- Yeah, that's crazy because I tend to think that the limb girdle, like many other muscular dystrophies, in fact, compared to Duchenne muscular dystrophy, which always seems to get the most coverage, that partly, I feel because everyone talks about the severity or the harsh nature of Duchenne... - Yeah, and it's not life-limiting in the way that Duchenne is so I'm very fortunate for that, and you don't get the same kind of heart or lung or trachea problems that you do with a lot of other muscular dystrophies. Literally the only thing that it affects is my ability to get around and pick things up. So you know, on the scale of muscular dystrophies, it's pretty good. - Yeah. Michaela, what's your view of limb girdle as you've grown up in in the neuromuscular community with SMA - spinal muscular atrophy type2?? - One of my big memories and probably the first time I became aware of limb girdle as a separate condition was when my little nephew, who was only 2 years old, saw someone with limb girdle and walked behind them copying their walk - which was when I realized that's actually what this is. And it never actually occurred to me - I was quite young then, I was only about 15 or 16... - Wait a minute, you were a disabled person laughing at other disabled people inadvertently!? - Yeah, I mean even now, Kian (my nephew) will come in and I'll be sitting watching TV and he'll pretend to try to drive a wheelchair! And he thinks it's hilarious! But what's always struck me about the difference with someone with Duchenne is that deterioration.

I feel there is a similarity between me and Zoe in that once the deterioration is done, it's more or less done. It stays there. And that's something that I'm particularly thankful for, and have always thought of myself as particularly lucky that I don't have to go through that deterioration. And it's impressive to hear Zoe say that too. We all find out silver linings and that's the really interesting part when we look at the different conditions and the way there's a silver lining in each one.

And we are all one big community. There's different names and everything, but collectively I always believe we're in the one boat. We face the same general issues day to day, and one of my good friends here in Northern Ireland lives with limb girdle, so I've become more aware of what it means to her on a day to day basis, and it's interesting to see her experience in a slightly different way, being diagnosed in her teens. So it's something that I never really thought about until I was probably 15 that there's this whole other groups of disabled people! - Yeah, and Ithink that's so important too, when you think about muscular dystrophy being a rare disease, and all the conditions being orphan conditions and then ultra orphan conditions and I mean, certain drugs to get orphan condition status, they get more of a push, but generally speaking, rare diseases don't get enough of a push that they need and I think that in realizing that, there is a significant benefit from accepting that all muscular dystrophies are similar. Yeah. Well, I think that's a wonderful introductory chat! Limb girdle muscular dystrophy awareness day - it's on the 30th of September every year. As you'll have seen, we did the green balloons this year to go alongside the red balloons of the Duchenne community as well.

So who knows - maybe we'll do more with Sulaiman and the others can get some congenital balloons?! I don't know - yellow balloons?? - Because he'll be jealous otherwise! - Yeah, oh, Sulaiman, if we don't do the same for Sulaiman, there'll be heck to pay! - Condition equality! - Hey Michaela is piping up now, we're gonna get balloons for SMA? I don't know if SMA people would want a balloon! - No I dont want a balloon! - They're very particular! - No, I'm quite happy without a balloon! - I think it's what people give to disabled people when they're trying to be patronising. - That's what we don't want to do!!! - So it's like, hey, we can have balloons or if you don't want balloons, you know, we can do a vidicast! - Haha, yeah I remember... Balloons remind me of when I was little, doing physio, and throwing them back and forward to get my wrists moving, and I remember pretending they were really heavy and dropping them back on the ground! - Hahah. I like it, I like it.

Ok maybe no balloons for you then, Michaela. Heheh. Zoe, do you want to lead us out? Final thoughts on LGMD and awareness of it? - I think awareness of it is low. I think generally when I tell people what my condition is, if they've heard of muscular dystrophy, they assume it's Duchenne. And then I get really weird looks because I'm not a boy.

And then they all think I'm going to die, and it's really tragic. So it would be nice, I think, to have a little bit more awareness so people don't automatically assume that I'm on my last legs as soon as they find out that have muscular dystrophy. So whatever we can do to raise awareness, that would be fantastic. But generally I think it is really good to just have that kind of muscular dystrophy awareness and community, as you actually said, in general, we're kind of here for the same reason - mostly! And to pit the different types against each other is perhaps counter-productive! So while it's limb girdle awareness day, it's muscular dystrophy awareness day more generally, and we should remember that! - Hahah.

Wonderful, wonderful! Brilliant episode! Thank you everyone for watching. Let's continue to raise awareness for limb-girdle muscular dystrophy. Thanks for joining in our limb girdle muscular dystrophy awareness day, and like always, if you enjoyed it, give us a like, follow, comment, and everything else and we'll hopefully see you again next time real soon! Peace out! Bye!!!!!.

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