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mummy24

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Learn about ALS
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uk
Hi. Ive posted on the PLS forum but have realised i dont seen to fit in there with my symptoms.

I have been told that I have a neurological condition after being referred to a neurologist and genetic dept. I have upper motor neuron signs including brisk reflexes and spasticity in my limbs..the spasticity has caused deformities in my limbs including pes cavus deformity in my feet and my fingers are starting to claw ( my toes are already clawed) I still have good mobility so im lucky...do have some problems but it isd minor compared to other people with similar conditions.

The thing that troubles me is i have muscle wasting in my lower limbs which has been pointed out by various professionals.

I know there is now way i have the normal type of ALS and i have been assured that my conditon seems to be of a hereditory nature.

They are testing me for rare conditions and so far they say its likely i have Hereditory spastic paraplegia, although i read some hsp groups and muscle wasting is only very rarely associated with HSP. I also share some symptoms with Charcot Marie Tooth disease...its like my condition is a mix of Charcot Marie Tooth abd Hsp as i have upper and lower signs.

My MRI showed no issues, was normal. Tested negative for Freidrichs ataxia. Negative for a common gene associated with HSP. Next step is the needle test thing., dont know what its called?

Could this be Familial ALS? Im very young so i know for sure it cant be normal ALS and i trust my doctors when they say its genetic. I wanted to ask this question to my doctors but im scared to.
 
Hi

You are young for ALS, true. What has them saying its genetic? They have diagnosed you based on a clinical exam alone or have they done bloodwork?

You can't have the ge Eric form of ALS unless you have family members that had it over several generations. I'm guessing by your stating about the 'needle test' that you haven't had an EMG yet.

Beky on the PLS side has a genetic UMN disorder. You may give her time to see your post on the PLS forum. She does tend to read over there.

Good luck to you. ALS is possible in anyone, just very,very unlikely at your age. 90 % of ALS is sporadic, meaning they have no idea of the cause. The you gest case Ive heard of is a 16 year old girl. Obviously not the norm at all. In those over 50 the stats are 2 in 100k people. I don't know enough about HSP to help much there I'm afraid.

The folks here have ALS, and aren't going to be able to he,p much with rare genetic conditions. You really do need to ask your doctor.

I do know you should write down all your questions and ask your doctor.
 
I actually responded to mummy on the PLS board, but it was a few months ago. We talked about the difficulties of an "HSQ" situation.

I'm no expert in familial ALS, but while I know it is slower, in your initial post you described slow UMN progression from the time you were a teenager to 24. I think even for familial ALS that is so slow and UMNish as to not be a worry. You may well have both HSP and Charcot Marie Tooth - one doesn't make us immune to the other. Some of the symptoms you described also fit very well into HSP and not at all into any form of ALS.

I think a good way to look at is this - forget the 3 letter acronyms for a moment. If you have a slow progressing, meandering disease that does 95% UMN damage and 5% LMN damage (or some straight muscle damage, or other atrophy causing thing), then that's what you're dealing with. Treat a disease as it is, with what challenges it presents you, names are for the paperwork. What makes the name "ALS" scary is how fast, relentless, just pure mean it is. That's not your situation, so don't fret yourself over it.

My friends just called mine "Beky Disease" until the neurologists came out with a different one. It works for me. ;)
 
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