Drop foot and C9orf72?

[Wooly]

My husband has bvftd (C9orf72) .He has had it for at least 10years and was diagnosed 2017.
He had tests for als when he was diagnosed and he didnt show any signs.Lately Ive noticed he has foot drop and is lifting his knee high when walking or slapping his foot down hard.
Could he be starting to show als symptoms?
I thought the tests were reliable.

 

[KarenNWendyn]

Could he be starting to show als symptoms?
I thought the tests were reliable.

ALS is a possibility, but so are a host of other neuromuscular problems. Best to get it checked out. At the very least, he may need AFO braces so he doesn’t trip and fall.

 

[Nikki J]

Definitely get checked out. With c9 if you get the ftd/ ALS combination the ftd is usually first so emg etc might well be negative initially because the als hasn’t started. I am sorry. And definitely get an evaluation for an afo and any other mobility assists

 

[Wooly]

Thanks I will make him another appointment with the GP.
He is going to Genfi again next month so they may pick it up before the neurologist.
He was referred back to the neurologists by the GP last month but we have to wait until next March for an appointment.Crazy!
I strongly suspect it is als as he has a few other symptoms but I was hoping to be wrong.

 

[Nikki J]

Can you call your genfi doctor and see if they can push this along? At least when they see him they should but with confirmed c9 and now footdrop he should be fast tracked. I forget which genfi doctor you saw but all of them are top drawer and should have influence to get him seen.

 

[Wooly]

We saw Jonathan Roher at Genfi.
I'm hoping that they will be able to push for tests and I have just called our GP. It's not easy getting my husband to agree to see a doctor, he prefers not knowing.

 

[Nikki J]

All the more reason to alert Professor Roher. If you let him know he may be able to get something done for the study which might be more acceptable