I was diagnosed (through gene testing) to have paramyotonia congenita.
I am 60 years old, and am noticing it is getting worse as I age.
Honestly, I feel like I am trapped in a muscle suit that is trying to squeeze me to death some days, lol (no kidding)!
I have learned through an email from University of Michigan's Lori L. Isom, Ph.D., who is the Chair of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology at University of Michigan Medical School and a Fellow - American Epilepsy Society Department of Pharmacology that, " my gene defect, specifically SCN4A, is also expressed in the heart and thus SCN4A variants have been associated with cardiac arrhythmia, which I have suffered from, but was chalked up as caused by "stress" until this diagnosis.
I was told that I likely need a detailed cardiac work-up, and to working closely with a cardiologist, and perhaps get a second opinion from the Michigan Medicine Cardiovascular Center.
I also was seen by a fine doctor at the Hauenstein Neuro-Science Center in Grand Rapids, MI, who indicated that when the sodium channel has a defect such as this, it leaves the "gate" open, which allows electroyltes to keep flowing into the muscle, making it fire /spasm. He indicated that sodium channel blockers are excellent at stopping this action. However, the drugs on the market currently come with their own risks.
That said, I opted for the natural sodium channel blocker route: CBD with some (Indica) THC to enable it to work synergistically (effectively) at reducing muscle spasms throughout the body, including cardiac muscle.
I also receive bi-weekly chiropractic massage paired with theraputic massage, and am sure to take at least two hot baths a week with epsom salt to help pull the lactic acid out of the muscles, which contributes to soreness.
I also get blood draws to check on electroyltes and a metabolic panel because I suffer from rolling deficiencies as a result of the muscles burning up the minerals and nutrients present.
I have learned (through experience) that when I start feeling Short of Breath (winded easily) my ferritin is low and I need to supplement with iron ( best is "Flora Iron + Herb liquid).
When I have muscles that just won't relax and start "roping" it's a potassium deficiency.
When I am weak and cannot even open a twist top, it's a magnesium deficiency, and Natural Calm (just mag) is the best for helping with that, and any tension headaches, heel spurs, high blood pressure, etc.
In the end, we have to become good stewards of these bodies we find our souls trapped in.
Tune in to what your body is telling you, and find doctors who listen just as intently, too!
Best wishes
I was diagnosed (through gene testing) to have paramyotonia congenita.
I am 60 years old, and am noticing it is getting worse as I age.
Honestly, I feel like I am trapped in a muscle suit that is trying to squeeze me to death some days, lol (no kidding)!
I have learned through an email from University of Michigan's Lori L. Isom, Ph.D., who is the Chair of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology at University of Michigan Medical School and a Fellow - American Epilepsy Society Department of Pharmacology that, " my gene defect, specifically SCN4A, is also expressed in the heart and thus SCN4A variants have been associated with cardiac arrhythmia, which I have suffered from, but was chalked up as caused by "stress" until this diagnosis.
I was told that I likely need a detailed cardiac work-up, and to working closely with a cardiologist, and perhaps get a second opinion from the Michigan Medicine Cardiovascular Center.
I also was seen by a fine doctor at the Hauenstein Neuro-Science Center in Grand Rapids, MI, who indicated that when the sodium channel has a defect such as this, it leaves the "gate" open, which allows electroyltes to keep flowing into the muscle, making it fire /spasm. He indicated that sodium channel blockers are excellent at stopping this action. However, the drugs on the market currently come with their own risks.
That said, I opted for the natural sodium channel blocker route: CBD with some (Indica) THC to enable it to work synergistically (effectively) at reducing muscle spasms throughout the body, including cardiac muscle.
I also receive bi-weekly chiropractic massage paired with theraputic massage, and am sure to take at least two hot baths a week with epsom salt to help pull the lactic acid out of the muscles, which contributes to soreness.
I also get blood draws to check on electroyltes and a metabolic panel because I suffer from rolling deficiencies as a result of the muscles burning up the minerals and nutrients present.
I have learned (through experience) that when I start feeling Short of Breath (winded easily) my ferritin is low and I need to supplement with iron ( best is "Flora Iron + Herb liquid).
When I have muscles that just won't relax and start "roping" it's a potassium deficiency.
When I am weak and cannot even open a twist top, it's a magnesium deficiency, and Natural Calm (just mag) is the best for helping with that, and any tension headaches, heel spurs, high blood pressure, etc.
In the end, we have to become good stewards of these bodies we find our souls trapped in.
Tune in to what your body is telling you, and find doctors who listen just as intently, too!
Best wishes
I was diagnosed (through gene testing) to have paramyotonia congenita.
I am 60 years old, and am noticing it is getting worse as I age.
Honestly, I feel like I am trapped in a muscle suit that is trying to squeeze me to death some days, lol (no kidding)!
I have learned through an email from University of Michigan's Lori L. Isom, Ph.D., who is the Chair of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology at University of Michigan Medical School and a Fellow - American Epilepsy Society Department of Pharmacology that, " my gene defect, specifically SCN4A, is also expressed in the heart and thus SCN4A variants have been associated with cardiac arrhythmia, which I have suffered from, but was chalked up as caused by "stress" until this diagnosis.
I was told that I likely need a detailed cardiac work-up, and to working closely with a cardiologist, and perhaps get a second opinion from the Michigan Medicine Cardiovascular Center.
I also was seen by a fine doctor at the Hauenstein Neuro-Science Center in Grand Rapids, MI, who indicated that when the sodium channel has a defect such as this, it leaves the "gate" open, which allows electroyltes to keep flowing into the muscle, making it fire /spasm. He indicated that sodium channel blockers are excellent at stopping this action. However, the drugs on the market currently come with their own risks.
That said, I opted for the natural sodium channel blocker route: CBD with some (Indica) THC to enable it to work synergistically (effectively) at reducing muscle spasms throughout the body, including cardiac muscle.
I also receive bi-weekly chiropractic massage paired with theraputic massage, and am sure to take at least two hot baths a week with epsom salt to help pull the lactic acid out of the muscles, which contributes to soreness.
I also get blood draws to check on electroyltes and a metabolic panel because I suffer from rolling deficiencies as a result of the muscles burning up the minerals and nutrients present.
I have learned (through experience) that when I start feeling Short of Breath (winded easily) my ferritin is low and I need to supplement with iron ( best is "Flora Iron + Herb liquid).
When I have muscles that just won't relax and start "roping" it's a potassium deficiency.
When I am weak and cannot even open a twist top, it's a magnesium deficiency, and Natural Calm (just mag) is the best for helping with that, and any tension headaches, heel spurs, high blood pressure, etc.
In the end, we have to become good stewards of these bodies we find our souls trapped in.
Tune in to what your body is telling you, and find doctors who listen just as intently, too!
Best wishes
Ditto on the WOW for finding a way to listen to your own body and understand it's needs so you can work with good doctors as a team. I think many people have lost a mind/body model for health because distress signals are so subtle. Until they're so intense and demand attention anyway, alas...
My son has just been diagnosed. I have been looking for support groups just to see what others who’ve been diagnosed have faced. I’ve been unsuccessful as it is a rare disease, anyone have any suggestions?
My son has just been diagnosed. I have been looking for support groups just to see what others who’ve been diagnosed have faced. I’ve been unsuccessful as it is a rare disease, anyone have any suggestions?
My son has just been diagnosed. I have been looking for support groups just to see what others who’ve been diagnosed have faced. I’ve been unsuccessful as it is a rare disease, anyone have any suggestions?
Hi @sanders0784 I second Sue's welcome and wanted to let you know that I moved your post to the link that she provided so that you can meet other people who have been diagnosed just like your son. Reference info: Everything You Should Know About Myotonia Congenita: https://www.healthline.com/health/myotonia-congenita
"For some people, myotonia congenita causes mild symptoms that can be managed through lifestyle modifications. But others experience significant ..." -- A Muscle Disease Concealed by a Muscular Physique: https://www.mda.org/quest/article/muscle-disease-concealed-muscular-physique
Thank you for your reply, this is a rare disease and I am working with the Mayo Clinic to try to find out which of the MC that I have as exercise and over work makes my muscles worse. I have no doctors where I live that can help or understand what I am going through, My neurologist at the Mayo is very helpful (as much as he can) and I see them once a year. I just have no one that understands my condition.
I too have Myotonia Congenita, I was diagnosed at age 26, it manifested with pregnancy, im now 57, I have a Doctor here in Libertyville Illinois that is a specialist of MC but I am the only patient she has ever treated with it.
I too have Myotonia Congenita, I was diagnosed at age 26, it manifested with pregnancy, im now 57, I have a Doctor here in Libertyville Illinois that is a specialist of MC but I am the only patient she has ever treated with it.
Welcome @jcatrette, It's good to hear you have a doctor that is a specialist with Myotonia Congenita even if you are the only patient she has treated with the condition. Has your doctor suggested any treatments or lifestyle changes that have helped you manage MC?
Hello Everyone it’s been awhile since I last posted, but seeing no one has this disease I don’t see the point. I really appreciate everything you do for us. I wish everyone here can benefit and know that they are not alone in there symptoms. No one Give Up and please talk with your doctors as they need to know how you are doing and feeling.
Hope Everyone has a Wonderful Christmas and Healthy New Year.
Thank you all for listening to me
Kim
Hi Kim,
I was recently diagnosed by three Dr's two of who were neurologists. They tell me I have Myotonia congenita AKA Thomsen Disease. I am 53 and mine seem to be triggered when I had to drag a guy out of my car into jail in August of 21. Causing back problems which led to what was believed to be sciatica. After multiple emg's they figured it was Thomsen’s and I had no trapped Nerves. I have tried a bunch of different medications, and nothing has worked. Gabapentin sent my AHI so high I had to stop it plus it was not working well. So now I just had my blood sent of to a lab in San Francisco for DNA testing.
I have pain in my legs like sciatic pain going from my butt down too my feet and into my toes. Then I get pains that come from my back around the front of my chest. I have shooting pains all over my legs in different places.
I have found from my research that Thomsen’s is common in Scandinavian countries where one in ten thousand have Thomsen’s as opposed to America where it is one in one hundred thousand people. So, it is very rare. I can trace my heritage back to the Viking and Dane invasions of England etc. So, I have to believe that Is how I inherited the disease.
I live in the Capitol City here in Minnesota and am beginning to look for resources and I am having the same problems you were experiencing a few years ago as I see I am late to the party 😊
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Appreciate the help!!
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1 ReactionI was diagnosed (through gene testing) to have paramyotonia congenita.
I am 60 years old, and am noticing it is getting worse as I age.
Honestly, I feel like I am trapped in a muscle suit that is trying to squeeze me to death some days, lol (no kidding)!
I have learned through an email from University of Michigan's Lori L. Isom, Ph.D., who is the Chair of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology at University of Michigan Medical School and a Fellow - American Epilepsy Society Department of Pharmacology that, " my gene defect, specifically SCN4A, is also expressed in the heart and thus SCN4A variants have been associated with cardiac arrhythmia, which I have suffered from, but was chalked up as caused by "stress" until this diagnosis.
I was told that I likely need a detailed cardiac work-up, and to working closely with a cardiologist, and perhaps get a second opinion from the Michigan Medicine Cardiovascular Center.
I also was seen by a fine doctor at the Hauenstein Neuro-Science Center in Grand Rapids, MI, who indicated that when the sodium channel has a defect such as this, it leaves the "gate" open, which allows electroyltes to keep flowing into the muscle, making it fire /spasm. He indicated that sodium channel blockers are excellent at stopping this action. However, the drugs on the market currently come with their own risks.
That said, I opted for the natural sodium channel blocker route: CBD with some (Indica) THC to enable it to work synergistically (effectively) at reducing muscle spasms throughout the body, including cardiac muscle.
I also receive bi-weekly chiropractic massage paired with theraputic massage, and am sure to take at least two hot baths a week with epsom salt to help pull the lactic acid out of the muscles, which contributes to soreness.
I also get blood draws to check on electroyltes and a metabolic panel because I suffer from rolling deficiencies as a result of the muscles burning up the minerals and nutrients present.
I have learned (through experience) that when I start feeling Short of Breath (winded easily) my ferritin is low and I need to supplement with iron ( best is "Flora Iron + Herb liquid).
When I have muscles that just won't relax and start "roping" it's a potassium deficiency.
When I am weak and cannot even open a twist top, it's a magnesium deficiency, and Natural Calm (just mag) is the best for helping with that, and any tension headaches, heel spurs, high blood pressure, etc.
In the end, we have to become good stewards of these bodies we find our souls trapped in.
Tune in to what your body is telling you, and find doctors who listen just as intently, too!
Best wishes
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2 ReactionsWOW what a brave trooper you are. I thought I had it bad, but you are amazing. I am adding you to my daily prayers.and thoughts.
🤗💕🙏🙏🙏🙏🙏🙏🙏. Skeleton
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1 ReactionDitto on the WOW for finding a way to listen to your own body and understand it's needs so you can work with good doctors as a team. I think many people have lost a mind/body model for health because distress signals are so subtle. Until they're so intense and demand attention anyway, alas...
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Like -
Helpful -
Hug
1 ReactionMy son has just been diagnosed. I have been looking for support groups just to see what others who’ve been diagnosed have faced. I’ve been unsuccessful as it is a rare disease, anyone have any suggestions?
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1 ReactionWelcome to Mayo Connect. Every day I learn of a new disorder here - I have no personal experience with it, but here you can read an earlier discussion about Myotonic Congenita if you click this link: https://connect.mayoclinic.org/discussion/myotonia-congenita/
Here is some information from the Cleveland Clinic about the disorder: https://my.clevelandclinic.org/health/diseases/22347-myotonia-congenita
And the Muscular Dystrophy Association: https://www.mda.org/quest/article/new-research-channels-for-myotonia-congenita
You may be able to find a support group here:
https://www.aanem.org/Patients/Muscle-and-Nerve-Disorders/Myotonia-Congenita
If you go to the Connect link & share a little about your son's diagnosis, you will probably get a reply.
Sue
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3 ReactionsHi @sanders0784 I second Sue's welcome and wanted to let you know that I moved your post to the link that she provided so that you can meet other people who have been diagnosed just like your son. Reference info: Everything You Should Know About Myotonia Congenita: https://www.healthline.com/health/myotonia-congenita
"For some people, myotonia congenita causes mild symptoms that can be managed through lifestyle modifications. But others experience significant ..." -- A Muscle Disease Concealed by a Muscular Physique: https://www.mda.org/quest/article/muscle-disease-concealed-muscular-physique
How old is your son?
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2 ReactionsI too have Myotonia Congenita, I was diagnosed at age 26, it manifested with pregnancy, im now 57, I have a Doctor here in Libertyville Illinois that is a specialist of MC but I am the only patient she has ever treated with it.
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1 ReactionWelcome @jcatrette, It's good to hear you have a doctor that is a specialist with Myotonia Congenita even if you are the only patient she has treated with the condition. Has your doctor suggested any treatments or lifestyle changes that have helped you manage MC?
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1 ReactionHi Kim,
I was recently diagnosed by three Dr's two of who were neurologists. They tell me I have Myotonia congenita AKA Thomsen Disease. I am 53 and mine seem to be triggered when I had to drag a guy out of my car into jail in August of 21. Causing back problems which led to what was believed to be sciatica. After multiple emg's they figured it was Thomsen’s and I had no trapped Nerves. I have tried a bunch of different medications, and nothing has worked. Gabapentin sent my AHI so high I had to stop it plus it was not working well. So now I just had my blood sent of to a lab in San Francisco for DNA testing.
I have pain in my legs like sciatic pain going from my butt down too my feet and into my toes. Then I get pains that come from my back around the front of my chest. I have shooting pains all over my legs in different places.
I have found from my research that Thomsen’s is common in Scandinavian countries where one in ten thousand have Thomsen’s as opposed to America where it is one in one hundred thousand people. So, it is very rare. I can trace my heritage back to the Viking and Dane invasions of England etc. So, I have to believe that Is how I inherited the disease.
I live in the Capitol City here in Minnesota and am beginning to look for resources and I am having the same problems you were experiencing a few years ago as I see I am late to the party 😊
Have you found anything that may help?
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Helpful -
Hug
1 Reaction