Do you have Miyoshi Myopathy or LGMD2B ?

[michigani]

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 to hear from different MM or LGMD2B (Dysferlinopthy) sufferers if your parents were "healthy" or at least MD free. This would be a huge help in me receiving a definitive diagnosis. Thanks.

Mark

[heidi holly]

Hey Mark,
Hi there I have MM and have had it for about 10 yrs. I got the final diognosis the day before my wedding. I know this much about Myoshi Myopathy is it is a recessive gene
and female linked.It becomes the disease when both parents have the "bad" gene.
I have been seen by panels of doctors to give Doctors a view of this disease. It isnt the worst thing to happen. I am active and bowl in a wheelchair. Myoshi is a disease that keeps the cell from regenerating and repairing themselves. over excersizing makes muscle go "away" so doesn't not moving enough.I am controlling my weight to keep moving by doing water excersizing. Please forgive the miss spelling. I am faily intellegent but have trouble typing because of the lack of sensation in my fingers also from myoshi. I found out from my mother that an aunt had this disease but it was undiognosed at that time. It is particular to norwegen background as well. I hope this helps.

Heidi holly

[heidi holly]

I have Myoshi Myopathy.

[michigani]

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. They are testing me for a Calpain 3 mutation, a Myotilin mutation and a couple other things. These gene mutations are Autosomal Dominant. Again, my dad had MD so the dominant forms are very suspect.

My quadriceps are gone, almost zero strength. But I can stand on my toes. Much different than your symptoms I assume? My symptoms DO seem similar to the Scandinavian or Middle-Eastern varieties.

You sound like you're handling it well. I am determined to keep a positive attitude also. I've got a great wife and 2 beautiful, healthy teenage daughters. Things could definetly be much worse and I consider myself blessed.

Best Wishes,

Mark

[dkbladez]

Hi Heidi,
I Was Wondering How You Were Affected Around Your Menustration Time? Do You Think Your Symptoms Are Worst Or Is There No Change? I Just Feel Like I Am Extra Tired About 2 Weeks Before And Afterwards I Have A Little Boost Of Energy.

Thanks,
Shellette