1978
10-17-2005, 05:41 PM
Hello All! I am a 26 year old female, who was diagnosed with Muscular Dystrophy (through a muscle biopsy) at the age of six. At that time, I was told that I have Limb-Girdle Muscular Dystrophy. However, my type of Muscular Dystrophy is now in question...
I suffer from weak arms and legs, which have gotten progressively worse as I've gotten older. I am able to walk and get around, but my pace has slowed down and I have difficulty climbing hills and stairs.
I also suffer from contractors (tightening of muscles) in my elbows and ankles. At my last appointment at the MDA clinic, the doctors suggested that I may have Emery-Dreifuss Muscular Dystrophy, rather than Limb-Girdle Muscular Dystrophy. Their main reason for thinking this is due to my contractors.
The main symptoms of Emery-Dreifuss include contractors (especially in the elbows, ankles, or upper back), weakness in the shoulders, joint deformities, and heart problems (usually after weakness already occurs).
After two months, I finally received the results of my Emery-Dreifuss blood test. My results came back as "inconclusive", meaning my DNA does not match with those who tested positive for Emery-Dreifuss, nor does it match with those who tested negative for Emery-Dreifuss.
The Geneticist told me to call back in a year or two, as more research and data may be available. Until then, I am feeling frustrated and hopeless. I feel like my life is on hold...
Do any of you have any advise for me? Do any of you have Emery-Dreifuss? Do any of you have Limb-Girdle, but also suffer from contractors? Any advise of input would be much appreciated. Thank you!
I suffer from weak arms and legs, which have gotten progressively worse as I've gotten older. I am able to walk and get around, but my pace has slowed down and I have difficulty climbing hills and stairs.
I also suffer from contractors (tightening of muscles) in my elbows and ankles. At my last appointment at the MDA clinic, the doctors suggested that I may have Emery-Dreifuss Muscular Dystrophy, rather than Limb-Girdle Muscular Dystrophy. Their main reason for thinking this is due to my contractors.
The main symptoms of Emery-Dreifuss include contractors (especially in the elbows, ankles, or upper back), weakness in the shoulders, joint deformities, and heart problems (usually after weakness already occurs).
After two months, I finally received the results of my Emery-Dreifuss blood test. My results came back as "inconclusive", meaning my DNA does not match with those who tested positive for Emery-Dreifuss, nor does it match with those who tested negative for Emery-Dreifuss.
The Geneticist told me to call back in a year or two, as more research and data may be available. Until then, I am feeling frustrated and hopeless. I feel like my life is on hold...
Do any of you have any advise for me? Do any of you have Emery-Dreifuss? Do any of you have Limb-Girdle, but also suffer from contractors? Any advise of input would be much appreciated. Thank you!
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michigani
10-17-2005, 09:01 PM
Hello 1978,
Believe me, I understand your frustration. See my thread dated 12-22-2004 "Unusual Muscular Dystrophy - Anybody Have?". I am not a doctor but a well informed patient. I've read hundreds of websites and articles about Muscular Dystrophies with unusual characteristics.
Have you ever heard of Bethlem Myopathy? You might find the phenotype (symptoms) interesting. It's a hundred-to-one shot but try looking into it.
Did one of your parents have MD? My dad did. Bethlem is Autosomal Dominant.
I have volunteered to partake in an "Inherited Disorders Study" at the National Institute of Health in hopes of getting a definitive diagnosis myself.
Best of luck and please keep "us" posted.
Mark
Believe me, I understand your frustration. See my thread dated 12-22-2004 "Unusual Muscular Dystrophy - Anybody Have?". I am not a doctor but a well informed patient. I've read hundreds of websites and articles about Muscular Dystrophies with unusual characteristics.
Have you ever heard of Bethlem Myopathy? You might find the phenotype (symptoms) interesting. It's a hundred-to-one shot but try looking into it.
Did one of your parents have MD? My dad did. Bethlem is Autosomal Dominant.
I have volunteered to partake in an "Inherited Disorders Study" at the National Institute of Health in hopes of getting a definitive diagnosis myself.
Best of luck and please keep "us" posted.
Mark
1978
10-26-2005, 07:21 PM
Thank you for your reply, Mark! I stumbled across this message board a few months ago and enjoyed reading all your messages. When I finally joined the message board and posted my message, I knew I could count on you to reply. Thank you!
In answer to your questions, no, neither of my parents (or any other family members) have Muscular Dystrophy. However, I did some reading on Bethlem Myopathy, as you suggested. I’m just so confused right now, and I really don’t know what to think. Fortunately, I am blessed with a wonderful husband and supportive family and friends.
So how old were you when you first started having symptoms, and how old were you when you were diagnosed? What exactly are your symptoms, and do you suffer from contractors at all…are you able to straighten your arms?
It sounds like your study at the National Institute of Health went well. Good luck with everything, and please keep us posted on what you find out. Take care!
In answer to your questions, no, neither of my parents (or any other family members) have Muscular Dystrophy. However, I did some reading on Bethlem Myopathy, as you suggested. I’m just so confused right now, and I really don’t know what to think. Fortunately, I am blessed with a wonderful husband and supportive family and friends.
So how old were you when you first started having symptoms, and how old were you when you were diagnosed? What exactly are your symptoms, and do you suffer from contractors at all…are you able to straighten your arms?
It sounds like your study at the National Institute of Health went well. Good luck with everything, and please keep us posted on what you find out. Take care!
michigani
10-27-2005, 12:33 PM
Hi 1978,
I always tell the doctors my first syptoms were trouble climbing stairs and getting out of chairs. This started around 38 years. I was diagnosed at 41. I'm now 44 and it takes all my might to climb stairs or get up. If I fall outside, forget it. My quadriceps just don't have enough strength to push me up. I also have weak tibailis (shins) which causes foot drop and tripping. Looking back, my feet used to slap when I walked. This was actually my first symptom around 25. I do not have contractures however. My fingers, hands and face are almost unaffected and strong.
The big mystery with me is that my dad had MD of an unknown kind. But my symptoms suggest a recessive type meaning my mother was an unwitting carrier. She's 73 and visually healthy.
I'm currently being tested for Calpain-3 Mutation, FKRP Mutation and Myotilin Mutation. These all have LGMD-like symptoms similar to mine. I should get the results the first week of December.
Keep a good atitude! There's lots of hope and promise in MD research these days.
Mark
I always tell the doctors my first syptoms were trouble climbing stairs and getting out of chairs. This started around 38 years. I was diagnosed at 41. I'm now 44 and it takes all my might to climb stairs or get up. If I fall outside, forget it. My quadriceps just don't have enough strength to push me up. I also have weak tibailis (shins) which causes foot drop and tripping. Looking back, my feet used to slap when I walked. This was actually my first symptom around 25. I do not have contractures however. My fingers, hands and face are almost unaffected and strong.
The big mystery with me is that my dad had MD of an unknown kind. But my symptoms suggest a recessive type meaning my mother was an unwitting carrier. She's 73 and visually healthy.
I'm currently being tested for Calpain-3 Mutation, FKRP Mutation and Myotilin Mutation. These all have LGMD-like symptoms similar to mine. I should get the results the first week of December.
Keep a good atitude! There's lots of hope and promise in MD research these days.
Mark
jcniii
10-15-2006, 03:24 AM
Hey Guys,
Both of your posts sound like my own history to a certain extent. My brother and I both have what has been diagnosed as Rigid Spine Syndrome, a form of Emery Dreifuss, with no heart involvement. Our symptoms appeared around 5-6 years of age...several biopsies/tests gave different conclusions over the past 3 decades. Our neurologist at the leading university here in Atlanta diagnosed us as both having Rigid Spine Syndrome.
This may now not be the case.
My new neurologist(who is much more progressive) feels that the diagnosis is incorrect due to several factors. RSS symptoms do not allow a patient to touch his chin to his chest which I can easily do. Also my brother and I both have finger contractions which are not a symptom of RSS. The new neurologist thinks that we have Bethlem myopathy. I have submited a DNA test to the only University in the states that can perform this test and will know the results in December. My neurologist at the big university's yearly visits comment was, "Well you're worse but not in a wheelchair yet, be grateful for that." Real compassionate huh?
There is no history of any MD on either sides of my family. This has really stumped the experts. But the new neurologist made the statement, "Everything has to start somewhere". Wow an actual statement I understand.
During the last 5 years my weakness has grown exponentially and I'm afraid I'll be in a wheelchair soon unless something is found. My brother is in the same state though doesn't like to admit it. I'm in touch with Mark B's comments about falling..Stairs are almost impossible now and if I fall, it's going to take a fork lift to get me back up...I walk with a cane now most of the time.
If either one of you knows of anything new on the horizon, let me know..
Thanks,
j
Both of your posts sound like my own history to a certain extent. My brother and I both have what has been diagnosed as Rigid Spine Syndrome, a form of Emery Dreifuss, with no heart involvement. Our symptoms appeared around 5-6 years of age...several biopsies/tests gave different conclusions over the past 3 decades. Our neurologist at the leading university here in Atlanta diagnosed us as both having Rigid Spine Syndrome.
This may now not be the case.
My new neurologist(who is much more progressive) feels that the diagnosis is incorrect due to several factors. RSS symptoms do not allow a patient to touch his chin to his chest which I can easily do. Also my brother and I both have finger contractions which are not a symptom of RSS. The new neurologist thinks that we have Bethlem myopathy. I have submited a DNA test to the only University in the states that can perform this test and will know the results in December. My neurologist at the big university's yearly visits comment was, "Well you're worse but not in a wheelchair yet, be grateful for that." Real compassionate huh?
There is no history of any MD on either sides of my family. This has really stumped the experts. But the new neurologist made the statement, "Everything has to start somewhere". Wow an actual statement I understand.
During the last 5 years my weakness has grown exponentially and I'm afraid I'll be in a wheelchair soon unless something is found. My brother is in the same state though doesn't like to admit it. I'm in touch with Mark B's comments about falling..Stairs are almost impossible now and if I fall, it's going to take a fork lift to get me back up...I walk with a cane now most of the time.
If either one of you knows of anything new on the horizon, let me know..
Thanks,
j