Should I get gene tested?

[ItsTough]

I'm 23. My dad is 53. He doesn't have a dx yet but ALS seems to be on the table so I'm trying to think ahead.

Should I get tested for fALS if he has it?

He is the youngest of 3 brothers, none of them have ALS. My dad's dad died age 72 from cancer and his mom is currently 88 with Alzheimer's

Both of my dad's parents had one sibling who both lived two their late 70s and died of other causes.

So I get that that seems quite unlikely anything would actually run in the family, but what about de novo mutations? I can't seem to find anything on the likelihood of that.

I'm just extra concerned because overall he'd be on the younger side for SALS from what I've seen.

 

[Nikki J]

No. IF your dad is diagnosed he is the one who should be tested. My clinic now offers testing to all PALS for all testable mutations. The more common practice is to offer C9 testing for all and possibly sod1. C9 because it is common and if there is a de novo issue it is likely c9. Sod1 because it is next most common and hopefully soon will be treatable. Then if the PALSis under 50 or if family history test for other mutations. IF your dad is diagnosed and IF he is found to have a mutation then you would need to talk to a genetic counselor and decide if testing is appropriate for you. It is not to be done lightly. You are WAY ahead of yourself

 

[ItsTough]

I am definitely ahead of myself, but after reading I'm pretty sure it is ALS.

I will update this with EMG results in a couple weeks

 

[ItsTough]

My dad didn't feel the need to ask for the EMG report so I don't have anything to post, but the neurologist poked and prodded his whole shoulder and arm area and assured him it was "100% not consistent with ALS", so I guess I was very far ahead of myself.

He didn't get any final answer yet as she'll have the full report some time next week, but its likely damage due to age & injury related cervical issues.