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corwin

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Mod note to future readers: Corwin's diagnosis was reversed and he was told not ALS. Please see his post on 2/16/2017

Yesterday I went to als clinic in Istanbul, Tyrkey and was diagnosed after 5 minutes exam and 2 hours EMG with bulbar Als. Doc thinks atypical because of the sensory symptoms but is 99 percent shure it is.
Somehow I feel relief.... Last 2 years eveeybody is teling me it is in my head but to hear it from mnd doc and to have it written......
I have a lot of issuesh - whole body twitching, tongue atrophy with fasciculation, shoulder weaknes bilateral, leg bilateral weakness, swallowing difficulties, ptosis, eyelid weakness, blurry vision and shortness of breath.
The mnd doc wants to test me for kenedy disease because of my gynecomastya and sensory issues + tremmor, but because i have brisk reflexes he told me the chanses are really really low...
The most painfull is that my 2 years daughter will not remember me...
I have achieved so much in so short life- in business and education, but the most importhant - to live happy and long with you familly... that i don't............
I haven't told to my life and familly I just don't know what to do..... I don't want to be potapo on wheel chair( sorry PALS) or to be burgain to my life and familly...
Don't know what to do... really...
I hope after the shock to have one slow progression but.....how knows....
So 32 years old with bulbar als....
 
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affected

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Would you please give us your EMG results?
 

corwin

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Ncs - all normal
Prolonged H reflex
Genioglossus
L insertion. Nl ,amp +1, pollyph. +2, dur nl, rec. Nl
R insertion NL, amp -2 ,pollyph. +2, dur nl, rec. Nl
L Deltoid post. Insertion Nl, ampl +1, pollyph +1, dur nl, rec nl
L messeteur, ins nl, amp+2, pollyph +2 , dur nl, rec nl
L FDI ins nl, amp +2 , polly + 2, dur nl, rec nl
L vastus lateralis , ins nl, amp +2, dur nl polly +2 rec -1
L gastro ins nl, amp +2 dur nl, polly +2 rec nl ,due nl, fasc +2
L tibialis ant ins nl, amp.+2 , polly + 2, rec nl,dur nl,.fasc + 1
No psw or fibrilations noted on exam

Abnormal.study - there is evidence of chronic neurogenic denervation of allmost all tested musc.
In com. With atrophy and reflex pathology ( hoffmann +, diffuse brisk 3+ no clonus rerlex.area enlarged) strongly suspected mnd with bulbar involvment
Test for SBMA - suggestion (slow progression, gynecomasthia, tremor, oligoazoospermia, baldness, level of atrophy doesn't match. with level of dysphagia and dysarthia, sensory sympthoms included without sensory neurophathy)

Reevaluation in 3 months needed

P.s.
I translated this from turkish sorry for not correct.english....
 

corwin

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The doc didn't find active denervation( emg was very painfull with needle twisting) but is pretty shure about mnd dx..
 

Nikki J

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Hi
First sorry you were told this. I know how it feels to hear

Second thanks for sharing your emg

Third that EMG would not get you diagnosed at my clinic or at the ones I have visited as research subject. They would say no active denervation =no ALS. They would likely follow you if your clinical presentation is as listed but they would not call it. I would say get another opinion but you have had multiple that said no before this one I think?

Fourth it is a label, right or wrong, and you are the same person you were 2 days ago. Diagnostic delay correlates with a slower progression and a lot of bulbar PALS are dead in the time from symptom onset it took you to get to this point so if this person is correct you are already a slower progressing case

Good luck
 

lgelb

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There are MNDs besides Kennedy (which you still might have, brisk reflexes notwithstanding) and ALS. There are also hereditary motor/sensory neuropathies with which you share features. I am skeptical that you have ALS given the history I see in your posts.

As Nikki says, whatever it is, is progressing slowly, so I wouldn't make assumptions about what your daughter will remember or not.

Best,
Laurie
 

affected

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This EMG would not be considered an ALS diagnosis in Australia either.

Your symptoms also don't match, so I hope they find something else, and strongly suspect they will. I hope that happens fast.
 

corwin

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Hi,
I also ask the neuro doc about active denervation, the answer was - somethimes the emg show no active denervation and in combination with fasciculation and atrophy we consider it for als lower neuron sighn.
I speak today one more time with him, basicly he is pretty sure but we wait for the SBMA test.
He also said it can be cery very very rare case of myasthenia, some dystrophy - something like oculopharyngeal( but there were no pain and twitching and reflexes issue) or some type of MS without spots
I ask about Lyme and he laught and told me if i wan't we can test via german lab.
But is pretty shure this is mnd...
Thw strangest thing is that , yes I have obvious atrophy in tongue and legs, but legs are weak, but not the tongue - it is very strong and.quick in movement... The doc told sometes atrophy comes before weakness which is very strange for me....
 

Nikki J

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Hi again
Things are obviously looked at differently there. I am not arguing with you what you were told. It is just really really different. We all know a certain percentage of people are misdiagnosed with ALS even here with strict criteria-and surely, the looser the criteria ,the higher the misdiagnosis rate. I continue to hope that is the case with you particularly as there are some things that are very atypical. Are you planning on returning to one of the doctors in your home country and getting their opinion on this new development?
 

corwin

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Hi Nikky,
Thanks for the answer...
I don't know really what to do.... I need some time to think about ...
Maybe another opinion.. The worse thing in this is that in my country the doctors are now so good. I say this with all my respect but all good docs go abroad to work fo 10x more salaries. And the neuros are almost gone... I don't look sick, this is also problem - people are expecting from you the normal things but you can't do it.... and in the end you are like lazy...
Today my whole tongue is buzzing and fasciculating. I feel all of them - like little electric shocks.. The mnd give me gabapenti 3x300 dailly and the pain is almost gone.
So maybe i will check another doc, I can go to als clinic in Greece or Austria or Germany..
But....really I need some time to think...
 

Nikki J

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Understandable. I would be incredibly confused in your place. Someone may be able to recommend where is good to go in Europe. I know Utrecht in the Netherlands is a site for clinical trials and think some people in my FALS group go there.

My clinic ( Massachusetts General) in Boston does remote second opinions by televisit
 

corwin

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Hi to all,
I make my another doctor oppinion and I think this will be last in my country..
In brief:
Check from 2 neuromuscular docs together.
Noted brisk reflexes and difuse atrophy in hands,face, upper legs and in tongue. Shaking limbs when resist a forse. All lims are shaking. No babinski, no clonus, bilateral possitive hoffman- but for the last they say not a big deal
Look all my 11(eleven... EMG's) and told me that deffinitelly is something very wrong and ask for byopsy.
Also again the 12 emg.....
That will be next month - after new year
They were 2 doctor and are very very interested of how I can have very prononce atrophy in tongue and to be able.to.touch my nose with it and to have full stranght in it.
Also told me the normal stuff - with mnd there is no pain and semsory sympthoms which in my case is very strange again because i have sooo much tongue pain and burning. I am living in daily pain and burning/tingling in tongue and throat.
One of the mnd docs told me with als you will lose the abillity to move the muscle because of denervation process and yes it can be slight in the beginning but deffinitelly will cause weakness but i don't have in tongue weakness, just atrophy....He cannot explain it. And when the tongue is innervated by only one nerve - it cannot be compensated from another nerve root. Which is also strange by me.
We spooke about my sympthoms and how i have some strange nerve pains and burning and tingling since 2011 and some thitching albeit minor from 2007.
He ask me about my fammily - and it comes to my mind my grandmother is a heavy twitcher so he told this can be also kennedy related...
Another told me the mnd althout well.researched are rare in my country and he will wait to see the byopsy results.
One stupid thing - the have failed to extract DNA from my sample for Kennedy disease, so next week.another blood test...
Now I have atrophy in both upper legs - simultaneously and bilateral weakness there - have troubles with climbing stairs and standing from chair. Also they found weakness in shoulder also bilateral and wasting in.voth shoulder.
Somehow.my body is losing mass everywherw and changing form..
Still 1 percent believe in me ( because of kennedy test and byopsy) that it can be something else than als, but the docs told me that they suspect very very strong mnd
 

KimT

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It's horrible to be undiagnosed for that long. I'm sorry.
 

AKNate

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Hi Corwin,

My husband was undiagnosed for 4 years because he didn't present like a regular ALS patient. My husband started with weakness in his legs which turned to atrophy in his shins and calf muscles. We went to so many doctors and did so many scans and tests - everything came back normal. Recently we wanted to try starting a family so asked for advice, the doctors suggested to do blood tests to see if my husbands condition was hereditary. We scanned for Kennedy's, SMA and a lot more in one go - one test came back positive for a SOD1 mutation.

Maybe push for further blood tests? I hope you find the answer soon. Knowledge is power when you know what you are up against.
 
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