----- Original Message -----

From: DeejLouise

To: dysferlin@yahoogroups.com

Sent: Sunday, April 19, 2009 9:29 PM

Subject: [dysferlin] Re: Non-dysferlin LGMD

Louise,

I live in Iowa, USA.

You are also the first family I've come across that has what I have. Doctors just know that I don't have dysferlin deficiency and that I have many of the same symptoms as those that do. Along with my tip-toe issue, I have a lot of fatty infiltration in my back muscles as well as muscle weakness in my calves, thighs and arms. I mentioned that my brother is showing symptoms, but he hasn't gone through any of the tests that I have been through. I don't know of anyone else on my mother's side of the family that had this, so it must have been a long ways down the family tree. Because this is on the recessive gene, no one really thought about it being passed down, since my mom was definitely not related to my dad.

I'm very interested in how pregnacey affected your mother. I would still like to have children, but because of my age (39) and not knowing how pregnancy would affect my body, I wonder what I could possibly expect to happen. I know that LGMD affects people differently so I know that how pregnancy affected her, may not affect me in the same way, but being prepared would make it easier to accept. I shouldn't have waited so long to start a family. :) I'm not totally convinced that pregnancy has anything to do with the progression of LGMD since my grandfather suffered quite severely from this and obviously he didn't give birth! You cannot assume that because your mother had you, that she was worse off. Also, how old was you mother when her knees began bending crazy? How old is your aunt that suffers with this?

Regards,

Donna

--- In dysferlin@yahoogroups.com, Louise Needham <louiseneedham@...> wrote:
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> Hi Donna,
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> Thanks for replying so quickly! You're the first family I've heard of who are dysferlin-positive as well, and it sounds like you have similar symptoms. My mum was the first one in the family who had this (as far back as we know), but now that my aunt has it at least we can assume it's recessive and not a new mutation. It seems like such a rare thing, the specialist kept asking if my grandparents were related since they must have both been carriers! (They weren't though).
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> Since the muscles in my mum's thighs are so wasted, she can't support herself with her knees bent the right way. So I think it just started happening when she was walking, her knees started hyperextending backwards because she couldn't support them. The specialist we saw a couple of years ago said if she carried on walking like that, eventually her knees would dislocate. He gave her braces to wear that stopped her knees bending, but after walking like that for so many years she couldn't get used to them. My aunt seems to be affected much less severely, her knees don't bend back, but her muscles are a bit weak and she can't stand on tip-toes. I think it affects you worse if you've had children, which makes me feel awful!
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> My mum has used walking sticks as long as I can remember (I'm 21), and her walking has gotten gradually worse over the years. She still manages to go short distances, but I was worried she was exerting herself too much, and now she uses a wheelchair for the more strenuous things like shopping. My mum still stays active - swimming is a good thing for her to do because she can use her arms mostly.
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> Just out of interest, where abouts are you? I'm in Newcastle, England.
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> Best wishes,
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> Louise
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> To: dysferlin@yahoogroups.com
> From: deejlouise@...
> Date: Thu, 16 Apr 2009 00:13:08 +0000
> Subject: [dysferlin] Re: Non-dysferlin LGMD
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> Hi Louise,
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> What your mum and aunt suffer from sounds exactly what my grandfather suffered from. They didn't have a diagnosis for him back when he first started showing signs. They just diagnosed him with muscular dystrophy. He started showing symptoms when he was in his late 30's and was wheelchair bound by his 60's. When I was a little girl, he was already using a cain to walk. His knees would bend back too. I wasn't close to my grandfather as my folks were divorced and he lived in a different state. But I do remember those few things. I now am suffering from some non-dysferlin LGMD. I'm 39 years old and started noticing symptoms about 2 years ago. I've under gone several tests, but all tests show that dysferlin is present and functioning. I have 4 brothers and one of them (a year older than me) is also developing symptoms. I only seem to have issues with toe walking as my calf muscles have wasted away to practically nothing. My brother, however, mentioned burning sensations around his knees, which I'm wondering if this is perhaps the beginnings of the crazy bending of the knee. He has also mentioned issues with tip-toe. I would be interested in keeping up with your mother's progress, as she seems to be on the same path of progression I'm heading towards.
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> I'll stop rambling now...
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> Donna
> --- In dysferlin@yahoogroups.com, "louiseneedham21" <louiseneedham@> wrote:
> >
> > Hi I'm Louise, this is my first post.
> > I don't have LGMD, but my mum has suffered with it for about 25 years now. Interestingly, she only started to show symptoms during her first pregnancy, aged 28. Now at 53, she is making the transition from walking sticks to wheelchair, but hopefully she won't be completely dependent on the chair.
> > I'm trying to find out more information, because my mum has one of the rare types of LGMD where her dysferlin function is normal. It is not known what gene mutation causes her condition, but they assume it is recessively inherited and that me and my sister will not be affected. My aunt is just starting to show symptoms now, at 56 and going through menopause! I was just wondering if anyone knows anything about it, or even knows someone that has this.
> > My mum has a lot of muscle wastage on her thighs, and when she walks her knees bend back at a horrible angle. However, her arms don't seem to be affected. Like most of you, she can't stand on her tip-toes and falls over a lot.
> > Any information would mean a lot,
> > Thanks, Louise.
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