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IgorZilio

Active member
Joined
Jan 10, 2017
Messages
51
Reason
PALS
Diagnosis
05/2018
Country
BR
State
RJ
City
Rio de Janeiro
Hey guys, I’m 25 years old, brazilian and live in Rio de Janeiro so, sorry if there are some english problems. About a year and a half ago I had a really weird viral infection that evolved to pericarditis and a bunch of other stuff, but I made a full recovery. A few months after, however, I started feeling some spasms and cramps but kind of ignored it. But it started to spread and in a few more months felt fasciculations pretty much everywhere, all the time, then I went to see a neurologist. So in june of last year I had an EMG and NCS, that only showed fasciculation potentials and had a possible diagnosis of BFS. Kept going to the neuro to see if there were any changes, but everything seemed ok, no apparent atrophy just a bit of strenght loss in my left hand and arm, but in the past four months I started having some difficulties to like lift a pan full of water out of the stove with my left arm and had to make much more effort to open a bottle of water with my hands for example. I then had another EMG and NCS last week and it was really bad. I translated the report:

“We found signs of denervation, represented by positive sharp waves and fasciculations, in muscles of the four members and in lumbar and cervical paravertebral musculature. The recruitment during maximum effort was incomplete in the muscles of the four extremities (decrease in functioning motor units), with high amplitude (10 to 15 Mvolts) and increased duration potentials (“giant motor unit potentials”), indicating an old reinnervation process (axonal return).
In the presence of these findings and a normal NCS, we must conclude that this is a disease compromising lower motor neurons of the four extremities, without suggestive alterations of bulbar involvement, at the moment.
Impression: Second motor neuron (LMN) disease, affecting the four extremities.”

I scheduled an appointment with my neuro 2 weeks from now and then I’ll see what she has to say, but I wanted to talk to people who’ve gone through what I’m going through right now. I’m actually really, really scared, don’t know if this is ALS, or an initial form of ALS, but I’m trying to stay positive. Do you have some advice on how to cope with all of this? It’s been a real shock.

Thank you!
 
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Hi, Igor.

After you have met with your neurologist, we would always advise a second opinion at another center. You do not mention if Kennedy's disease was ruled out? Your nerve abnormalities could relate to the virus you had, as well, rather than to a primary MND.

MND is rare at your age, especially with the gradual onset you report, and while the report suggests denervation, without numbers for PSWs etc. it is not clear that you have both acute and chronic denervation, so I would not jump to conclusions as yet.

Best,
Laurie
 
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Hi, Igor.

After you have met with your neurologist, we would always advise a second opinion at another center. You do not mention if Kennedy's disease was ruled out? Your nerve abnormalities could relate to the virus you had, as well, rather than to a primary MND.

MND is rare at your age, especially with the gradual onset you report, and while the report suggests denervation, without numbers for PSWs etc. it is not clear that you have both acute and chronic denervation, so I would not jump to conclusions as yet.

Best,
Laurie

Hi Laurie. When I first started showing symptoms I had a battery of tests. My family has a history of autoimmune and rheumatic diseases, so I had tests for pretty much everything, from arthritis to MS, tumors, etc. all ruled out. Genetic testing for Kennedy's was negative.

Talking to the neuro that perfomed my EMG, it actually appears I'm having acute denervation at the moment with ongoing reinnervation, so that's why I'm not showing many symptoms now. PSWs 3+/4+ when they showed up . Complex fasciculations in all analysed muscles, and all 4+. He also believes that I probably already had a predisposition to MND and the virus triggered something and I'm developing the disease earlier than usual. Given the atypical circumstances of the development of the disease, its progression and manifestations will also be atypical. I'll be looking for a second opinion as soon as possible.
 
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Yes, I would be getting a second opinion ASAP. Let us know, please.
 
Well, it’s not looking good. Doctors are leaning towards ALS. I’m with UMN signs as well, clonus in knees and ankles, hyper-reflexive, positive Hoffman in both hands, some spasticity. No Babinski though. Had a diffusion-tensor MRI fiber tractography, waiting the results, might help to confirm UMN involvement. Everything else is ok, probably gonna have to wait a bit to see the progression to really confirm ALS but there’s not much left as DDx, unfortunately. Just hope it’s a slow progression, having trouble doing some things with my left arm because of weakness, dropping things with my right hand and a lot of cramps everywhere especially legs when I walk, but still able to perform ADLs.
 
So sorry to hear about your symptoms. Sending you good thoughts and energy your way.
 
Hi, Igor,

Sorry to hear of the continued bad news. Did you get a second opinion at another hospital or institution?

Best,
Laurie
 
Hello Igor,

Sorry ALS is still on the table. Lots of good wishes. I do hope you got a second opinion.

Keep us posted.
 
Yes, got a second opinion. Two specialists in neuromuscular diseases. The neuro that I've been seeing for 7 months and another one. The opinions were pretty much the same, not 100% certain now to diagnose me with ALS but it's the likely diagnosis. I'm being referred to a hospital with a research center for ALS/MND where my primary neuro works, but it's a public hospital so there's some bureaucracy to get an appointment there because everything needs to be done through the public health system and I'm doing everything through the private system with my insurance. But I've already started the process to go there, it's more of a complementary thing to get medicine (like riluzole) and other things like BiPAP that the insurance won't cover but the public health system does, so it's good to be part of the system already to prepare for everything. Once I have the result of the MRI I go back to my neuro to see the next steps.
 
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Hi Igor,

I'm so sorry that docs are leaning to ALS has a diagnosis. Please get a second opinion and do keep us posted.

Take care. Thinking of you during this time.
 
Hi Igor,

I'm so sorry that docs are leaning to ALS has a diagnosis. Please get a second opinion and do keep us posted.

Take care. Thinking of you during this time.

I will, gonna look for a third, fourth, fifth opinion till there's really nothing left to think. Thank you very much!
 
Igor, your recall of medical terminology, procedures and chronological order is exceptional.

Are you in a medical related field?

However, a second opinion is usually suffice. A third is optional concerning ALS but as you wrote...

"I will, gonna look for a third, fourth, fifth opinion till there's really nothing left to think." ?

You're working with two (three ?) Neurologists currently. Why not work with them and let them
follow up in their observation, exclusions and conclusions?

Good luck in your pursuit and the good luck being you do not have ALS.
 
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So sorry about your bleak prognosis. It seems that you are well on the way to get everything rolling, that's good.
Come here often for info and support. In regards to the Brazilian health care system you're gonna be the expert, not much help here, but for anything else you found the right place. Welcome!
 
Igor, your recall of medical terminology, procedures and chronological order is exceptional.

Are you in a medical related field?

However, a second opinion is usually suffice. A third is optional concerning ALS but as you wrote...

"I will, gonna look for a third, fourth, fifth opinion till there's really nothing left to think." ?

You're working with two (three ?) Neurologists currently. Why not work with them and let them
follow up in their observation, exclusions and conclusions?

Good luck in your pursuit and the good luck being you do not have ALS.

Yes, almost graduated in medical physics, worked on some radiation research, more specifically radiotherapy in the treatment of glioblastomas and tensor analysis applications in neurosciences. But I decided to go to a more "biological" field, so recently started a course in biophysics, actually began to notice some weakness in the lab when doing cell culture, pipetting gradually started to become more difficult. Now with everything going on probably will go back to finish my medical physics degree and go on to a master's.

Regarding the neuros: two at the moment yes, not desperately going after doctors, only thing next is the appointment at the ALS center. Both doctors are being very careful not to jump the gun and give me a "You have ALS" now, mostly because of my age. But as they said, everything else has already been ruled out and I fit the criteria. Still, it's that 'wait and see' diagnostic limbo at the moment. Who knows right? Still have some hope of being just a very freaky neurological episode haha
 
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