I wanted to ask everybody about something: One type of mutation is a "premature stop codon" essentially, a DNA sequence which tells the cell (prematurely) that...
Hi everyone, It's been good to hear your voices and see some encouraging information coming across lately. As far as the DNA analysis, my genetic counselor at...
Hi Ron, This is a really interresting point. I'm affraid I don't know why either. I work in mental health and the case is the same with for example,...
Hi, I'm so glad this group exists, given that this thing is so rare, it's the last thing I expected to find but I'm so glad I did. Thank you to everyone who...
Hi Ron, Yes of course you're right about schizophrenia, as soon as I posted it I realised I had been rather over general and misleading about similarities with...
Hi Bex Glad to hear there's someone else in the UK with the same kind of disease (in the nicest possible way!). I think you must be the first person I've heard...
Hi everyone, FYI, Children's Hospital in DC is planning to do a dysferlin panel in the near future, running a gene analysis on the dysferlin gene specifically....
Hi everyone, I noticed that people had mentioned the dysferlin website which I used to have. Unfortunately that fell by the wayside, and now a cybersquatter...
Marian, Actually, I just went to Children's today to get my blood drawn for that study! I agree, that is an excellent opportunity, and it will be valuable not...
Marian, Actually, I just went to Children's today to get my blood drawn for that study! I agree, that is an excellent opportunity, and it will be valuable not...
Marian, I just got my blood drawn at Children's today for the DNA study! Thanks for mentioning it to the group members, and hopefully others will benefit as...
I was just diagnosed yesterday with Miyoshi Myopathy. I was originally diagnosed with LGMD when I was 18 (started having symptoms at 15). They were able to...
Glad to have you join the group. I have Miyoshi also, and had symptoms beginning at 18. I'm 43 now, and have used a wheelchari for the last 4 years. Like...
I just found out about mine, as you know, well, at least specifically what kind of mutant I am. I am only 34, but I am about 10 years ahead of you as far as...
Hi all. I sent this message last Sept or early Oct-but it never posted. So here it is- just know that I'm talking about last spring and summer (2005). I'll...
I don't know if it has been discussed but...I use toe-up braces and they help me to walk much better and help give me more stability as well. I recommend them...
I have miyoshi myopathy. I believe they did a blood check on my mother. I don't remember them telling the results. She doesn't show any signs so she must be...
Sorry about posting and disappearing like I did. Our computer took a crash and I have had to rebuild it. Anyway, enough about my woes. I will try to be a...
Wow, that does seem fast. I hope you can get someone to listen to you and figure out what is making it progress so quickly. It seems that one of the...
I used mine for years. They were great until I fell, then the toes took a serious beating, along with the knees. Trust me, in my case, the chair is MUCH...
My name is Donna. I'm a 37 year old mother of 2 teens and a grandmother to one beautiful 2 year old little princess. I was diagnosed with LGMD at the age of...
Hello, Donna, My suggestion would be to ask for a blood test to check for the most recent types of genetic mutations, or however you may want to put it. I was...
Has anyone here had any joy with physiotherapy at all? My brother (also with Dysferlinopathy) has found it very helpful, and I am just about to embark on some....
I think I might be quite lucky as my metabolism seem to be naturally quite fast and I've always been pretty skinny, I'm hoping it will help with my mobility -...
Thanks ron, that's clarified things for me to some extent, I didn't realise the genetics of the disorder were so hazy still. Yes, there are definite pluses for...
I think the recessive bit means that both of your parents carried the defect and both passed the defective gene on to you. If your parents both carry it there...
Hi everybody, I have found this group while I was searching desperately for a cure/information for the LGMD 2B through internet. I would be glad if you do have...
Hi Everybody, I have found below pasted article regarding this ivig treatment. I am new at this group and would like to know if any one tried this treatment?...
