blh8287

blh8287
Been awhile since I've been on here. My neurologist and researchers believed my problems were from a mutation they found on IRF2BPL.

Spacisity in legs and dystonia all upper body. They ended up implanting a Baclofen Pump.

A couple months back, my brother got diagnosed limb onset ALS.

We both have pathogenic c9orf72 expansion. I'll be seeing an ALS specialist in a couple weeks

If you happen to stop back here can you give me an update?

Thank you for the update. So Sorry for all your troubles. I am a bit surprised the EMG was on one muscle, but glad it didn't show LMN involvement. My doctors are still looking at progression on my check ups. No further testing.

Hi. I see you haven't been here in a while. Do you have any news or a diagnosis? How was the EMG? Hoping to catch up soon.

I've had fasciculations on my EMG's since 2011. Now my neuro's will not do any more till I show 'clinical' weakness. My brain MRI's have all been clean. The process of finding a proper diagnosis is quite frustrating. Thanks for the update and good luck to you.

Haven't learned anything new, the NIH wants me to get a new EMG by an ALS specialist because of fasciculations they have observed and something on my most recent brain MRI.

Have you found out any more about your condition or our SPG 11 gene mutation?
How are you feeling?

Yes, left hand muscles and left leg. I'll stay in touch.

I'll keep you posted when I find out any new info. I'm going to a new neuromuscular doctor in May.
Do you have any weakness? Keep me posted if you find out anything new, if you can.

I have been told I either have PLS, ALS or HSP and FTD. My main symptoms are hyperreflexia, clonus, myoclonus, and cognitive impairment. I have read some studies showing SPG11 is also found with sporadic ALS.

I wouldn't know how the NIH operates but I'm not a big fan of specialist at this point in my life. If you read some of my previous threads you'll know why. I would think the patient should have a right to their records but it doesn't seem that way, in some cases.

I don't know if 'our' SPG 11 plays a role in our illness or not but If I had to guess, I'm assuming it would, to some degree, who knows?

I've read about the juvenile ALS. My symptoms started when I was about 42.

Seems we both have progressed slowly but with different symptoms. Sorry To hear they thinks it's FTD. Do they mention ALS with it? Has anyone mentioned ALS to you?

My main symptoms are hyperreflexia (all over), clonus, on/off jaw jerk, hoffman (gone now), fasciculations & weakness. (Not clinical per Als specialist) I've been experiencing a lot of shoulder/joint pain now as the weakness gets worse.
Can you build muscle?

The NIH is being very tight lipped about my tests. They won't even bring up the other gene which is mutated; they just say they don't think HSP. They take forever on their DNA testing. I have been told I probably have FTD...I suppose the cerebral atrophy may verify that. Anyway I just know the SPG11 is common in juvenile ALS, but I was like 43 when symptoms started.

I have not, but I've read articles on spg11 on my own through Google. To be considered for HSP, I BELIEVE, you would have another mutation on a different gene, other then spg11. So that might be good news for you, well if you are thinking you have ALS vs HSP that is.....

Maybe you can request a copy of your gene test, I did. It will tell you WHAT mutation of spg11 you have, plus a lot more information. I believe mine was c3037, but I would have to look again to be positive.

Hello,
What questions about my mutation do you have? I do not have a definite diagnosis yet. Mine also does not look like HSP.,all testing on me was done in 2011, ALS is still on the table.
How long have you had symptoms? What are they?