Old 09-10-2018, 11:31 AM #1 (permalink)
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Interest: I am a family member of someone with ALS/MND.
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Default C9orf72 Found on Family

Hello to everybody, I haven't post in this forum for almost 3 years, but I still fight with my symptoms. To remind you my family situation, I am male, 42 years old. I have lost two uncles in the age of nearly 50 from ALS. They were brothers from my mother's side. Also her father(my grandfather) died from FTD at 71 years. Two days ago I had some bad news, from my mothers cousin who lives in France, that he has ALS and FTD and he is about 50 years old. He was gene tested and found positive on C9orf72. The moment I heard about it, I was terrified more than I already was.
The last three years I have constant fasciculations in my both calves and arches of foot in both legs, also widespread through the body, but my hotspots are calves and feet, unstoppable for three years. Also I get a lot of pain in my calves and feet, with the feeling of cramps, mostly under feet.
I have visited many neurologists, but not an ALS specialist, since there is no one in my area in Greece and I had 10 emg done in those three years. Last one was one week ago and they all came back normal, except the finding of fasciculation.
I have many questions, I don't know from where to start and I hope, that you can help me with your experience on this situation.
1. My mother is 61 years old and healthy. Is it possible to have the same gene as my other relatives?
2. If she has it, would I have 50% chances of having it, too?
3. Is it possible after three years of symptoms and clean emg to have ALS?
4. What should i do next i am terrified and dont know how to move on.
Thanks for your time, looking forward for your replies.
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Old 09-10-2018, 11:54 AM #2 (permalink)
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Default Re: C9orf72 Found on Family

If your mom has the c9 mutation your chances are 50/50. Her brothers probably had the mutation so her chances are 50/50 or maybe a touch less since she remains healthy at an age when 1/2 of female carriers have ALS. If she does not have the mutation you do not.

C9 is not a mutation known to have a prolonged twitching period before symptoms as sod1 has.

You could ask to be gene tested. A negative test would help you calm down. A positive test would not give you a diagnosis. I would recommend extensive counseling before chosing this. A positive gene test is knowledge you might find difficult to handle.

C9 has a gene blocking trial starting more research is underway. The outlook for carriers is excellent
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