Frontolobe dimentia.

Deborah K

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heredity question

Hello everyone. My first post. I'm Deb from Australia. scared to say much right now. I'm actually waiting for a diagnosis and "incidentally discovered my grandmother died of pneumonia secondary to ALS in 1970. I read in Google scholar that not all people with the faulty gene will progress to ALS. What have you heard. Thanks Deb
 

Nikki J

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Re: heredity question

First one relative with ALS is more than likely what is termed SALS sporadic ALS. SALS occurs apparently randomly and children are only slightly at increased risk over the general population. This is because people with SALS are believed to have a slight predisposition that is triggered only because they were exposed to a series of ( currently unknown) triggers

There are multiple gene mutations that have been found in FALS. Most are autosomal dominant but have varying penetrance. This means that the chance of a carrier getting ALS is different depending of which mutation. It varies from almost 100 percent to much less

An offspring of a mutation carrier has only a 50 percent chance of inheriting the family mutation. If they don’t their increased risk is none
 

Deborah K

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Hello everyone. It's just me Deb. I have read some threads,...ok...many threads..lol about Al's symptoms. I am getting closer and closer to a diagnosis. Lots of very attractive diseases now eliminated. So very fearful.

I suppose i am concerned regarding behavioral changes. I have noticed and also my friends that I have been more disinhibited over the last year. Ifeel like it's normal. I put it down to being nearly 60 and not giving a care what people think. But I sang out loud to a group of 20 year old boys in the street. It was funny...they laughed. I laughed. I do Ellen dancing behind d my friends when we are walking down the street. Also very funny.

But I recently went to dinner with a friend and sat down at a table that had not been cleared. I was hungry so I pulled over a plate of left over food and proceeded to eat it. I am even laughing as I type this. My friend was horrified. And I just felt like it was normal and they would only throw it out anyway. I'm recycling I told her. But she says it's not normal when I have never done that in 20years of knowing me. She's right Of course.

but my first y neurologist (randomly saw in hospital) said " I see where your going with this but your behaviour was humourous So nothing to worry about. Am worried to tell my private neurologist. I haven't told him yet.. he's investigating me for ALS for last few months and I've not brought it up.

Am having NCS today. Am unsure why secretary didn't book me in for the EMG at same time. But I'll check today. I haven't cried much over last few months but yesterday couldn't stop. I'm a very happy person and laugh easily so this crying was very scary. I even thought I'd have to go to hospital. Lol . Do they have a drug called 'Crying Be Gone'? I admire you all. Kindest thoughts Deb
 
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ShiftKicker

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Mod note- merged threads.

Deborah, I've added your already open thread to this so your details are all in one place. That really helps people answer if all the info is together. Just keep posting on this one thread.
 

Nikki J

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Those are odd symptoms and yes you should tell your neuro. Stress can do weird things to you and cause you to act strangely so don’t jump to conclusions

Stress can also cause the crying you noted and there are meds to help. Be open and honest with your neuro so they can evaluate this and help you
 

Deborah K

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Thankyou Nikki. My NCS of arms came back good. One more week till NCS of legs. Then further week till EMG. Will definitely tell my neurologist next appt. Cheers. Deb
 

Deborah K

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Deb's update.

Hi again. I found out by calling other neuro testing facilities that they all do the NCS of lower and upper limbs and the EMG at the same appointment. I'm pretty disgusted with my current neuro. Who is making me pay for 3tests instead of one. And also making my journey towards diagnosis 2 weeks longer. I'm from Australia so probably only of interest to them.

But also discovered that general practitioners can order NCS. So you don't have to wait for your neuro appt. Other tests useful to do to ensure a baseline prior to neuro appt is seeking a speech pathologist, lung function study, excercise physiologist. Especially if you are having any symptoms in these areas.

One more useful advice. Only do self examination weekly. And document. Otherwise the scared and frightened like me are looking every day for changes. This was helpful when I showed my neurologist who could see the tracking and speed of my symptoms. I know this post may not make it due to content but I think some of my ideas may come in useful.

I really didn't want to complain about my neurologist before. But at my appointment he diagnosed me with Parkinson disease in 5 minutes, which I was very happy with.he wrote out script for meds. Then I was thinking that he had not checked my reflexes, clonus or read my speech pathologist report. So I brought this to his attention and then He said it wasn't Parkinson. So losing faith in him fast.

I have second neurologist appt coming up. Was a registered nurse over 30 years so was always going to have a second opinion. I asked my GP to give me two referrals at once. If happy with the first neuro then I'd cancel the second one. BTW still waiting for EMG. I really hope I've been helpful and not just venting. I won't be upset if you feel this Post is not appropriate. Thanks Deb
 
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lgelb

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Re: Deb's update.

Hi Deb, sorry to hear your first neuro was a waste of time. I agree it sounds time to move on and hope your next appointment is more helpful.

In the States, because plans have varied reimbursement policies about who can order what when, I will just take a broad brush and caution everyone that your comments are of course most applicable to Aussies.

I like your suggestion to self-baseline once a week, so long as the baseline is accurate about what you can and cannot do, as much as what you feel. This is not directed at you, particularly, Deb, just a general comment.

Best,
Laurie
 

Deborah K

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Hi again. Second neurologist looking at Parkinson with a few odd symptoms. EMG showed tongue fasciculation but none in arms or legs. But he didn't do my face where I have RT side atrophy or under my chin. With ALS Do Fasciculations start in to the tongue and then move to other areas? I am more than happy with a diagnosis of Parkinson if these fasic and brisk reflexes don't indicate ALS.. thanks. New neurologist appt to evaluate results on the 20th. Anything you can advise for me to ask?
 

Nikki J

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Fasciculations can be wherever but without other things on the emg wouldn’t be suspicious for ALS. A tongue emg is considered fine for bulbar ALS screening

PD is a serious condition but I agree preferable to ALS Do let us know how your appointment goes!

Good luck
 
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