... Hello Bird !
I noticed that you are from Sweden. Very interesting because although my symptoms closely resemble LGMD2B, I have not yet received a positive diagnosis. What's interesting is that my dad had MD but HIS was more distal, that is it affected his hands and feet first. His MD resembled Welander's or some of the Scandinavian muscular dystrophies. Also, high on my... (8 replies)
... Hi Heidi,
Thanks. Much of what you told me I've found out through reading and research. But I do appreciate your reply. I've been on a 3 year diagnostic journey. Muscle Biopsy shows that I have no Dysferlin Protien. But I do not have MM or LGMD2B. This is the case in about 2% of Dysferlinopathies. I've just returned from the National Institute of Health in Washington DC.... (8 replies)
... Please share with me: Did either of your parents have Muscular Dystrophy?
I have Dysferlinopathy, or a dysferlin protien deficiency. This causes both Miyoshi Myopathy and Limb-Girdle Muscular Dystrophy type 2B. My symptoms point towards LGMD2B.
But Dysferlin deficiency is Autosomal Recessive. My Father had MD suggesting that my condition is Autosomal Dominant. I'd love... (8 replies)
... Thanks for the advice. Believe me! I've spent years studying every type of MD and talking with my neurologist about each one. I am very familiar with Miyoshi and LGMD2B. But I've been tested negative for those. Plus my calves are strong (I can stand I my toes. My shins are VERY weak). I'll keep searching for answers and best of luck to you as well !
Mark (4 replies)
... years old with LGMD.....also Dysferlinopathy but not LGMD2B or MM. ... (17 replies)
... Hi Kathy,
Keep me and the rest of us posted on you biopsy results. Even though I am still undiagnosed with any specific MD type, my biopsy DID rule out many things. I often wish I could get another since so much more is known since 2002 when I had my 1st biopsy. One significant thing that I did find out was that I have an unusual Dysferlin Protein deficiency. People with... (7 replies)
... Hi, i'm Miriam. I was looking for any new updates on LGMD2B, which i was diagnosed with about 3 yrs ago, and I stumbled upon this website. Although i try not to read up on it as much because i feel depressed afterwards, i decided to give it a second shot and im glad i did. Jodie, if you read this, thank you for your honest words, they were insightful and helpful which made me... (39 replies)
... It's not LGMD2B either! ... (12 replies)
... Welcome Cologayle! Wow! Almost the same story with me.....47 years old, undiagnosed LGMD, my dad had it, I knew years before that I had it, then was finally diagnosed at 41 years old. We're still looking for that "naughty" gene that's causing all this. We know I have a Dysferlin deficiency but not enough to cause LGMD2B or Miyoshi Myopathy; those tested negative. We think the... (4 replies)
... Hi Allan,
The Jain Foundation is specifically concentrating on the 2 types of Muscular Dystrophies that are caused by Dysferlin deficiency. This would be Miyoshi Myopathy and LGMD2B. I am sure like us, they are hoping that MYO-029 can help that type of MD as well as many others.
Mark (42 replies)
... (17 replies)
... ly last night was one of them! But I didn't get hurt at all. My quadriceps are very weak. Stairs and chairs are my worst nightmare too. My symptoms are closer to LGMD2B then they are to Miyoshi. We think I am missing a different undiscovered protein and that the dysferlin deficiency is secondary. ... (17 replies)
... Hi Mark,
Thanks for your reply. I am 24 and was diagnosed 3 years ago. I have looked up the internet and got alot of information but this year has been been a good one to date. At the start of this year when I was in glasgow my knees went on me and a fell and broke a bone in my foot. Then 2 months ago the same thing happened and I broke my big toe. I usually have to... (17 replies)
... Hi carebear,
I'm sorry about your diagnosis. There is a lot of information on Dysferlin deficiency on the internet. If someone lacks this protein they will have Muscular Dystrophy because dysferlin helps your body rebuild muscle that is injured or lost to age. The type of MD is either Miyoshi Myopathy or Limb-Girdle Type 2B (LGMD2B). I am guessing you are late 20's or 30's?... (17 replies)
... Hi again Micheybell,
First, I apologize for refering to your cousin as your niece in my 1st post.
Your cousin is lucky to have such a caring helpful friend. I have a few....they still take me on our anual camping/canoe weekend that we've done for 20 years and help me all weekend.
So your cousin has LGMD2B. This means they've detected a Dysferlin protein deficiency. If... (5 replies)
... Mark Thank you for your response. She has LGMD2B. Both my aunt and uncle are carriers. They were checked. After speaking w/ my aunt I understand that she is doing physical therapy occassionally but doesn't want to commit. She's young and wants her life. Understandable in a way. She also is on vitamins and creatine. She told me they didn't do anything anyway. She... (5 replies)
... :angel: (22 replies)
... Hi This Is My First Time On Here. I'm 38 Female With Lgmd.i Have A Husband Of 21yrs,3kids,22,18,11.i Dont Know Where To Start. While Here It Goes.i Was A Work Horse Before I Got Sick. 2005 I Was Rushed To The Hospital,i Had A Renal Infection.i Was About 90 Pds,i Couldnt Breath,i Was Burning All Over My Body.i Thought I Was Just Over Worked.they Sent Me For Some Many Blood... (22 replies)
... Hello again!
One of my first symptoms was difficulties running in gymnastics in school. Another symptom was that I couldn't stand on tip toes. My problems was then most located to my calves muscles.
Now I have problems also in my thighs muscles and in my biceps muscles. I have no trouble with my hands or with foot drop. I have problems walking long distances, getting up... (8 replies)
I have lgmd 2B and was diagnosed with this in October 2006, with help of a muscle biopsy. I have also taken a DNA-test to confirme this if possible. My parents are both "healthy" and there is nobody known in my family with this disease. My problems started when I was around 17, now I am 33 years old.
Best regards from The Bird (8 replies)