ALS in family, neurological symptoms

[malin]

Hi, im new here. Im not diagnosed with anything yet but i hope there is someone here who can listen to my story and reflect. Two in my fsmily had als (my mothers aunth and my mothers cousin.) It began in july with sudden weakness in my left shoulder, then after that my weakness had spread in my body. Cramping in hands/underarms. Fasciculstions in legs, arms, back and stomach. Tingling in the same area. I feel and can se my muscles are smaller, for instance att my kinbone and my tighs are smaller. When im examined i have no clinical weakness, they think i should have that by now. I have very brisk reflexes, when they test one leg the other jump, but the doctor test them again while talking to me she thinks they were less active. They think for now thats not als but im feeling worse and worse, not day by day, more like one week to another. My question: i read a lot of cases thats started with a weak arm or foot and that show clinical weakness, for me it is widespread but mild weakness (that follows places of other signs), are there anyone who knows about such form of the desease and is there any specific examine i should require (i have done the emg in dec and will it again in s month). Thanks!

 

[Nikki J]

It does not sound like ALS really and the EMG being normal is reassuring. Were you seen by a neuromuscular doctor? Might be worth checking in given the FALS history. Is the cousin the child of the aunt? What ages were they? Is your mother living? In good health? Age? Any other neurological diseases in that bloodline?

If the aunt's sibling that was your grandparent was healthy and long lived and your mom is too the odds are greatly in your favor you can not inherit a defect from an unaffected person.

 

[malin]

Thanks for a quick answer. The cousin is not child of the aunt. One were arround 65 an the other arround 75 when they got it. My mom and here two sisters are well and all of my cousins. My grandmother lived till 83 and i think she only have ordinary agesymtoms. She lived in a home the last years.

I have been examined by local neuro a couple of times and even in another town were they have science of this desease. I am going to do the follow up emg in that town too. I took test of spinal cord fluid in about a month ago and they couldnt se any sign in neurofildment (i had 222).

i think otherwise i have to go abbroud to get tested. I live in sweden, any clue of were to go in europe? Were they are really good at this?

 

[Nikki J]

I would not leave the country for testing. It sounds as if the people who are doing the emgs are specialists.

How are the two people who had ALS related to each other? Given your mom and grandmother were / are fine it does not sound like you need to worry too much about the genetics. How old are you?

 

[malin]

Grandma had two sisters. One of them had the desease. And the others sisters daughter had the desease. I just turned 41. I know there is much talking against it but then again, why am i getting worse and nothing is found, that is concerning me. If they find something else i would relax. And i read so much about the diagnos can be hard to find at the beginning. All i can do is wait and see and thats sucks. I just wish there was a blodtest to take. Thanks for your help and time! I have to try to think of something else.