Hi, i'm Mavy from Italy (Venice). Hope you understand me (i studied a little bit of english many years ago......)
Anyway, i'm 33 and when i was 30 i began to show the first symptoms of myotonia. I didn't know absolutely what was that. I only know that i couldn't relax my arms, my hands, my jaw and my throat. (I had just finished a rehabilitation series for my knee with exercise and electrostimulator that made me cry becouse i felt so strong for me...and i began to take vitB 12 for months).
My neurologist after doing EMG told me it was MC and i went home without medication becouse it was still manageable.
It passed a year and sometimes i forgot to have it becouse it was too mild i think, but it changed last year in summer.
I don't know why if i was more stressed or what i begun to have extrasystole and i felt so scary that i thought it was MC. Myotonia got worse and took my legs and feet and i had anxiety, i begun to feel tired/weakness....and i had to eat carbohydrates like pasta, creckers to feel better. My neurologist told me it was anxiety and stay calm and no answer for carbohydrates. Becouse i was vegan i take B12 vitamin another time and my stomach problem like diarrhea got really worse for many months (they told me stress!!) since i looked the ingredients: mannitol, sorbitol....So i stopped it and diarrhea too but i can't eat foods with them.
Now myotonia is worse and i couldn't stay without carbs every days ( before MC i could stay without eat for many hours....).
So for many reasons my metabolism has changed, my life changed. If i warm up muscle it works but after exercise i feel tired and very stiffed. In the morning it's very hard. I can't walk a lot like in the past and i'm not able to do things that i did. Is strange but sometimes my body is cold in summer too. My parents did emg and only my mother (she's a twin but she has many others brothers) showed myotonic discharges but without symptoms or some confused.... and perhaps my cousin (mother's twin doughter ) has some problems with legs. I've a doughter she's 12 and she doesn't have symptoms.
I did DNA test and it confirmed miotonia congenita. I saw database and it seem a new mutation (it can be dominant and recessive). I'm very confused and need some good advice!
Thanks for reading this long post. Mavi

Type of Myotonia: Myotonia Congenita

Country: Italy

Bonjourno! I haven't looked at this forum for about 5 years and was just flicking through the posts when I came across yours and saw that no one had replied.

I was diagnosed age 35 (am 47 next month) with Thomsen's but never had any symptoms until late 20's. I have always been very sporty - played hockey, rollerskate, gym - but nowaways I find any activity tiring. People say it's because I need to do more but I get exhausted after just half hour in the gym or an hour aerobics class. The next couple of days I will be aching all over and sooo tired. I don't eat pasta as my body doesn't like the high GI effect and try to eat only natural foods and no processed products. My Myotonia gets much worse if I'm stressed or anxious. Yoga is the one thing that really helps and strenthens and also Pilates. I don't get so tired after doing these things.

My husband and I have just started eating a serious amount of fruit - 5-6 bananas a day/oranges/apples etc - mostly blended into a drink, and this has given me much more energy. I always thought this was too much fructose but have now changed my mind as the benefits are many.

I hope you've found advice somewhere. All the best

Type of Myotonia: unknown

Country: United Kingdom