Help to define disease of my wife

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KonstantinMarcu

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Joined
Oct 31, 2021
Messages
1
Reason
CALS
Diagnosis
10/2021
Country
UK
State
KY
City
Kyiv
Hi.
The wife is 34 years old and doctors diagnosed her with motor neuron disease based on the symptoms and results of the ENMG.
We are from Ukraine, but now we are undergoing examination in Turkey.

She underwent an MRI scan of the head, larynx and all parts of the spine - no problems were found.
We did various blood tests: general, for viruses, ticks, vitamins - everything is normal.
Whole body CT is all clean too.
Only according to the results of the collection of cerebrospinal fluid, an increased protein was revealed, which indicates that there is a virus in the body.
But at the moment they cannot cure this disease (they do not guarantee), but only offered to introduce immunoglobulin.
The course for 5 days and after it does not give any guarantees. They are simply sent home to Ukraine.
In Ukraine, apart from Edaravon and Rilutek, they also offer nothing.

Her symptoms:
- On June 1, 2021, the speech changed - it became quieter and the pronunciation changed
- end of June - began to notice that the language became heavier / slower
- Early July - weakness of the right hand - it is harder to speak
- mid-July - there was a tightness of two fingers of the index and little finger - they could not be aligned
- The beginning of August - I felt that the rest of the fingers of my right hand were pinching (except for the thumb)
- The beginning of September - all the fingers are clenched into a fist hard, but they do not open from the middle of the phalanx of the fingers - I began to speak a little, because it is difficult to pronounce words.
- the end of October (now) - I practically don't speak, I eat solid food normally, I drink with caution, because sometimes I choke, my right hand (or rather a hand) can’t do anything to it, from time to time everything hurts - my back, left arm, legs!
Muscles twitch all over the body.

None of the doctors believe that such a disease can develop so quickly in 5 months, but at the same time they cannot understand what the problem is.

At the moment, they leave the diagnosis - the loss of motor neurons, despite the inflammation (increased protein), since they did not encounter a similar case like mine.

1) Could you recommend a clinic in the USA (or Europe) that specializes in this disease?
All the same, in the case of high protein, you can find exactly what exactly the central nervous system is affected by ...
2) Have your patients used the IBM AI machine to determine the cause of inflammation, infection, or virus?
Or, can the IBM department advise where you can clarify this?
3) Can you advise what else to investigate in my case?
4) What diagnostic methods are used in your country to diagnose ALS?
5) Does elevated CSF protein exclude ALS and need to look for a reason for the correct treatment?
6) In our country, they do not treat, do not study this disease - from the proposed Rilutek, tell me what other drugs are there, what developments are underway, methods of treating the disease, where you collect information about the research of the disease

thanks a lot
 

ShiftKicker

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Joined
Mar 16, 2015
Messages
4,537
Reason
DX UMND/PLS
Diagnosis
06/2015
Country
CA
State
BC
City
Vancouver
Hello-

I am sorry for the situation that brings you here. It must be very stressful for you both. It might be helpful if you could post the EMG report (with all identifying information removed). It does sound like an unusual situation. People might be able to provide a bit more assistance if they see the EMG report, with summary.
 

Nikki J

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Joined
Mar 22, 2012
Messages
11,166
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
This is confusing. At the original diagnosis they were given immunoglobulin. What were you told about this? It is not an ALS treatment but rather would indicate they thought it was an autoimmune mimic? Or was it more they were giving one desperate long shot chance but believed it was ALS? The csf protein might indicate that is a path to follow or at least ask about.

as faras treatments riluzole and edaravone are what we have in the US too. There is also a drug called nuedexta which is mostly for emotional lability but may help swallowing a little for a few months only

the emg report might be helpful but do realize we are a patient /caregiver community we are not neurologists
 
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