michigani
08-01-2005, 10:58 PM
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. :confused: Thanks.
Mark
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. :confused: Thanks.
Mark
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heidi holly
12-21-2005, 06:22 PM
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
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
12-21-2005, 06:28 PM
I have Myoshi Myopathy.
michigani
12-22-2005, 10:16 AM
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
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
12-28-2005, 03:23 PM
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
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
ellynr12
11-05-2006, 05:23 PM
I have Miyoshi Myopathy and was diagnosed so only about a year ago.
I am almost 52 years old (next week) and I started having problems when I was somewhere around 45. So that is very late.
I don't understand everything that is written about type numbers etc. I am Dutch and do understand a lot of the English language, but not everything.
On the 16th of this month I have an oppointment with my neurologist in Leiden Universitair hospital, and will ask her to translate things from Dutch into English to be able to compair it with what is written here.
Take care! :wave:
I am almost 52 years old (next week) and I started having problems when I was somewhere around 45. So that is very late.
I don't understand everything that is written about type numbers etc. I am Dutch and do understand a lot of the English language, but not everything.
On the 16th of this month I have an oppointment with my neurologist in Leiden Universitair hospital, and will ask her to translate things from Dutch into English to be able to compair it with what is written here.
Take care! :wave:
TheBird
12-29-2006, 12:13 PM
Hello!
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
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
michigani
12-29-2006, 09:47 PM
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 list of suspects is UDD muscular dystrophy (one of the Scandinavian types).
Do you have any trouble with your hands or foot drop? My dad did, but I don't have that so much, just somewhat. My main trouble is weak thighs, shins and stomach (sit-up) muscles.
I'd be interested to hear your symptoms. I'm 45, they started at 38 or so, but I was always kind of slow as a kid.
Best of luck to you. Reply if you can.:)
Mark
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 list of suspects is UDD muscular dystrophy (one of the Scandinavian types).
Do you have any trouble with your hands or foot drop? My dad did, but I don't have that so much, just somewhat. My main trouble is weak thighs, shins and stomach (sit-up) muscles.
I'd be interested to hear your symptoms. I'm 45, they started at 38 or so, but I was always kind of slow as a kid.
Best of luck to you. Reply if you can.:)
Mark
TheBird
01-01-2007, 12:19 PM
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 from sitting position, climbing stairs and carring things. I use a cane normally outside but crutches in the winter.
Best regards from the bird
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 from sitting position, climbing stairs and carring things. I use a cane normally outside but crutches in the winter.
Best regards from the bird