Hi,

I have thomsen disease, (I have taken a dna-test). My father has taken the dna-test and he does not have it, so I guess I have it from my mother, but she does not show any symptoms and have not had any problems with anesthesia or during pregnancy. But none in my family have got this, grand-parents, grand-grand-parents, uncles, aunts, cousins,etc. how is this possible? can it just be asymptomal for many generations and then suddenly pop up in me!? will future kids get this even worse than me?

best,

tom

Type of Myotonia: thomsen

Country: Germany

Tom,

My family also has Thomsen's. My mother had no symptoms at all and had even gone through several surgeries with no problem, but when she was about 50 she had a routine biopsy and had cardiac arrest from the anesthesia. They were able to revive her and then she had an EMG which showed very pronounced myotonic discharges. It totally surprised her doctor.

The only other relative at that time that we knew of with symptoms was a distant cousin. His mother had a little stiffness when she was pregnant, but didn't think much of it. My sister was affected for a few years in her teens and then seemed to be fine. I have two daughters with MC, one with few symptoms and the other quite severe, and one granddaughter with MC which is fairly mild at this time.

So it is possible for some mutations to get passed through a family with very little symptoms, and then for some reason it will cause quite severe symptoms in someone down the line. My mutation is G230E which can be either recessive or dominant. There are probably other factors which make it become more "potent" in some family members. I was exposed to a great deal of pesticide at a young age, so perhaps that was part of it for me.

Was your testing just for myotonia congenita? It's always possible that you have a sodium ion channel mutation along with the MC mutation that's causing it to be more severe.

Jan

Type of Myotonia: Thomsen's

Country: US

thank you

yes, i was justed tested for myotonia congenita. what is a sodium ion channel mutation?

best

Type of Myotonia: thomsen

Country: Germany

The sodium ion channel myotonias include hyperkalemic periodic paralysis and paramyotonia congenita. They are similar and sometimes hard to distinguish without testing. Paramyotonia tends to get worse as you exercise, whereas MC gets better as you move and warm up. Also paramyotonia patients tend to be very sensitive to cold and to potassium in the diet.

If you have your lab results you can send them to me and I'll look up the mutation to see how it is classified.

Jan

Type of Myotonia: Thomsen's

Country: US

Hi Tom,

The same holds true for me. Although I didn't have the dna test. I did have a muscle biopsy and was diagnosed back in 1972. Neither of my parents have it. My grandfather was said to have had arthritis real bad. I wonder if in fact it wasn't arthritis but thomsen's. They didn't go to doctors and even if they did it was so long ago I'm sure they wouldn't have been able to diagnose it. I went to a genetics counselor at the MDA in Los Angeles, CA back in the mid eighties. Prior to starting a family because I wanted to know the risk of passing it along. I was told if I had a female the chances were very slim that she would have it. But if I had a male it would be a 50/50 chance. I was also told it is more prevalent in Germany. My daughter was born and she is just fine. My son however has it. I was taking quinidine gluconate, but the pharmaceutical company that produces it went absolutely crazy with their prices in October. My prescription went from $42 a month to $569 with insurance coverage. So needless to say I stopped taking it and have been suffering without meds. My son had Dilantin and gave me some of his pills. It helps but not as much as the quinidine. The best medicine I ever had was quinidex, but they stopped making it.
Are you on any meds?
Sincerely,
Bernie

Type of Myotonia: thomsens

Country: usa