Limb Girdle Muscular Dystrophy

Posted by ditamontoya @ditamontoya, Jul 21, 2022

Is anyone dealing with LMNA and want to discuss different symptoms they have?

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

Hello @ditamontoya and welcome to Connect. We do have some members who have discussed muscular dystrophy problems. Here is a link to an article from the John Hopkins website about this rare disorder, https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/muscular_dystrophy/conditions/limb_girdle_muscular_dystrophy.html.

In this article it states,

"The Limb-Girdle muscular dystrophies (LGMD) comprise at least a dozen different specific entities. Each of these distinct disorders is in itself rare. Patients with LGMD usually begin to have symptoms in adolescence or early adulthood, however, some forms of LGMD are more severe with symptoms beginning in childhood. Typically, these symptoms include weakness in the shoulders, hips, upper arms and legs. For example, patients may have progressive difficulty lifting or climbing stairs. In some forms of LGMD, the heart muscle is also affected. Although LGMD is inherited, there is frequently no family history of this disorder."

On Connect we have a member, @oldkarl, who has specifically mentioned this. Here is a link to one of his posts where he discusses this disorder.
https://connect.mayoclinic.org/comment/335930/.
Please read his post and I hope that he will join in this discussion with you.

Is this a new diagnosis that are you dealing with now? If so, will you please share how long ago you were diagnosed and what your most troublesome symptoms are?

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@ditamontoya

Thank you for reaching out!

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You're very welcome, @ditamontoya. I look forward to hearing from you again.

Will you post again so that you can share your journey of this rare disorder with the Connect community?

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@ditamontoya and @hopeful33250 .. I was diagnosed as having LGMDr23 in 2015 by two labs working independently. This is an interesting and peculiar disease. At my birth, the doc knew things were not right, but he did not know the details. He said I was a "floppy baby", and would probably not live long. Now, at age 82, I am still sort of floppy, I suppose. Anyway, It often comes along as part of a AI package of diseases, often related to a myeloma(amyloidosis) family. I have Gelsolin (Finnish Amyloidosis), many touches of cancers in my body, etc. One sister has died of this at 60, her daughter at 55, another dying at 75, another at 87. Now, another truth. Much of this may be environmentally related, such as radon, Round-up, mercury, lead, carbon monoxide, bitter cold working temps, extreme heat, gross physical exhaustion. Just noting the many potential triggers of LGMD. I played, coached and officiated football 30 years. Ran my last half-marathon at 50 yrs. Now, for the fun part. There seems to be no real knowledge of how LGMD works, or even what it does to nerve and muscle; thus no treatment beyond just going like hell every minute of every day. Some days I could barely crawl out of bed. But I have backpacked all over Oregon, Washington and Idaho. I have never been really smart but hold a BA, Master's, Doctorate. I have 20 great-grandchildren, including two Marines. So my advice to you is just go for broke, It will do no good to hold anything back. Fill this column with stories of what you have done with your life. We lived in motor homes for 12 years across the USA, Maine to Cal, Fla to Washington. And worked with churches around the world. So have fun with your life. And if you ever run into some doc who said your life would be a waste, laugh in their face, strap on your pack, and move-it, move-it oldkarl.

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@oldkarl

@ditamontoya and @hopeful33250 .. I was diagnosed as having LGMDr23 in 2015 by two labs working independently. This is an interesting and peculiar disease. At my birth, the doc knew things were not right, but he did not know the details. He said I was a "floppy baby", and would probably not live long. Now, at age 82, I am still sort of floppy, I suppose. Anyway, It often comes along as part of a AI package of diseases, often related to a myeloma(amyloidosis) family. I have Gelsolin (Finnish Amyloidosis), many touches of cancers in my body, etc. One sister has died of this at 60, her daughter at 55, another dying at 75, another at 87. Now, another truth. Much of this may be environmentally related, such as radon, Round-up, mercury, lead, carbon monoxide, bitter cold working temps, extreme heat, gross physical exhaustion. Just noting the many potential triggers of LGMD. I played, coached and officiated football 30 years. Ran my last half-marathon at 50 yrs. Now, for the fun part. There seems to be no real knowledge of how LGMD works, or even what it does to nerve and muscle; thus no treatment beyond just going like hell every minute of every day. Some days I could barely crawl out of bed. But I have backpacked all over Oregon, Washington and Idaho. I have never been really smart but hold a BA, Master's, Doctorate. I have 20 great-grandchildren, including two Marines. So my advice to you is just go for broke, It will do no good to hold anything back. Fill this column with stories of what you have done with your life. We lived in motor homes for 12 years across the USA, Maine to Cal, Fla to Washington. And worked with churches around the world. So have fun with your life. And if you ever run into some doc who said your life would be a waste, laugh in their face, strap on your pack, and move-it, move-it oldkarl.

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I love this and love your story!!! Thank you so much for sharing, I absolutely love it. I have struggled for the past couple years and just feel like crap. Unfortunately, there is a string of my family that has tested positive for LMNA1b and I only got tested to see if my son would be negative. My dad died at 46 and we now know he was positive because I am. Thank goodness my son is negative. I have two aunts, an uncle, and seven cousins so far that have tested and positive. All the adults have some sort of pacemakers and my uncle had a transplant already. I try not to get wrapped up in the pitty party, but you are right….some days its hard enough just to get out of bed. I just need to force myself to keep going. I appreciate your story and it gives me motivation to keep moving foward. You have lived a success life and I am proud of you. Xoxo

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@oldkarl

@ditamontoya and @hopeful33250 .. I was diagnosed as having LGMDr23 in 2015 by two labs working independently. This is an interesting and peculiar disease. At my birth, the doc knew things were not right, but he did not know the details. He said I was a "floppy baby", and would probably not live long. Now, at age 82, I am still sort of floppy, I suppose. Anyway, It often comes along as part of a AI package of diseases, often related to a myeloma(amyloidosis) family. I have Gelsolin (Finnish Amyloidosis), many touches of cancers in my body, etc. One sister has died of this at 60, her daughter at 55, another dying at 75, another at 87. Now, another truth. Much of this may be environmentally related, such as radon, Round-up, mercury, lead, carbon monoxide, bitter cold working temps, extreme heat, gross physical exhaustion. Just noting the many potential triggers of LGMD. I played, coached and officiated football 30 years. Ran my last half-marathon at 50 yrs. Now, for the fun part. There seems to be no real knowledge of how LGMD works, or even what it does to nerve and muscle; thus no treatment beyond just going like hell every minute of every day. Some days I could barely crawl out of bed. But I have backpacked all over Oregon, Washington and Idaho. I have never been really smart but hold a BA, Master's, Doctorate. I have 20 great-grandchildren, including two Marines. So my advice to you is just go for broke, It will do no good to hold anything back. Fill this column with stories of what you have done with your life. We lived in motor homes for 12 years across the USA, Maine to Cal, Fla to Washington. And worked with churches around the world. So have fun with your life. And if you ever run into some doc who said your life would be a waste, laugh in their face, strap on your pack, and move-it, move-it oldkarl.

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Hello @oldkarl,

I agree with @ditamontoya that yours is a great story! It is definitely one which needs to be shared. I really appreciate your ability to move forward with life's challenges and create a life that is full and rewarding!

I'm looking forward to hearing other stories about people who have pressed on!

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Hi @oldkarl, as John said, we recommend not sharing personal identifying information in the public forum. We would never send a letter or email asking you to post your phone number or email address. Might you have received a private message from a fellow member asking to exchange emails? The private message function is a more secure way to share personal contact information should you wish to do so. However, sharing collectively in the public forum helps many.

Karl and @ditamontoya, I'm grateful that @hopeful33250 connected the two of you.

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Actually, if you want my personal address, just look me up on the IN through any bookstore and send a payment, the larger the better, Better yet, just be sure to put enough zeroes on it. I have heard that adding zeroes to the amount of a check actually makes the load lighter. Or was it that adding zeroes helps the judge decide how long the time to serve should be? Either way, I am in this because I enjoy meeting and greeting folks from around the world who struggle with the same stuff I deal with every day. It keeps me going. My wife and I went to a parade near Baldwin LA a few decades ago. Now, not that it makes any difference, but we are usually noted as white. But we were sitting there in our lawn chairs, and a 2-year old black boy was standing beside us. He looked at wife's face for several minutes, then simply climbed up in her lap, put his head on her shoulder, and went to sleep. All he know was that he was tired, and there was an available lap. That is the way the world should be for everyone. . oldkarl

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Because I have some other AI stuff, I have been trying to ignore my LGMDr23 and FKRP. Because there is no treatment yet and no cure, and it has been causing less trouble than my Gelsolin, cardiomyopathy and other stuff, I pay little attention. But I am sure those days are nearly past. Walking, especially up stairs or for any distance without an aid, is almost unbearable. Anyway, I apparently will be in a scooter, soon. But my mouth is filling with little sores. I have only recently found the name (besides little *&*^*%^&*). Seems they are small BB-size peaks or eruptions called "Torres del Muir" (or Muir-Torres) and they are part of the Myeloma-Gelsolin package. Form tiny volcanoes with scabs, itch a lot, Dentist just called them "tories". They are all over both shoulders, hips, nose, head skin, neck, scalp, etc. Anyone have a treatment other than a sharp knife or a big dog with a rough tongue? oldkarl

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