ALS?MS?Both?Neither?What do you think?

[SkunkGR]

Greetings, everyone.

This is my first (29M) post and it has to do with the health issues my mom(62F) has been dealing with during the last couple years. I know that you cannot get a diagnosis through the internet, but living in a town in a Greek isle, you will understand that, given how complicated things are, it's impossible for doctors here to be sure about anything. So, to begin:

• Mom was 19 y.o when she suddenly lost her eyesight for a couple days. Her eyesight did come back and the doctor blamed it on anxiety because of school and never searched further.
• Some tingling during the following decades which would come and go, but still, she saw no reason to look into it, since it would resolve on its own.
• Fast forward to 2016, for a period of time, she has objects falling off her hands, but again, it goes away so she does not look into it.
• 2019-2021 she starts complaining about lower back problems which caused her to be tired. Gets MRI, doctors find herniated discs.
• Middle 2021, she seems to be quite uncomfortable with the lower back pain, causing her to lay down a lot, but she could still easily work (sometimes 15 hours/day), swim, drive, walk with no issue and even run when she had to. -2022 she gets Covid, experiences flu-like symptoms, but then her back problems and tiredness start to get slightly worse. She decides to get a surgery for hernia in October 2022.
• After getting out of surgery, she stays at home for 1 month and then goes back to work, but, as you will see, not for long. She was complaining that her recovery was not supposed to be taking so long.
• January 2023, a relative notices slight changes in her speech, so she decides to look into it. Gets an EMG, which shows abnormalities and her doctor thinks it is ALS. Later that day, she gets an MRI and it shows demyelination in the medulla oblongata, which would be consistent with MS. This is when things start to get complicated.
• During the following 3 months, her mobility gets noticeably worse, which made her stop working.(Small steps, would slouch after 1 minute of walking) She also gets a CSF test, which shows oligoclonal zones, again consistent with a Multiple Sclerosis diagnosis. During that time, she also got Covid again, which seemed to exacerbate her situation.
• April 2023 doctors prescribe cortisone to her, to see if it helps her.
• And it did, for the whole summer, mom was like she was in January. Her steps got bigger, slouching stopped, she could easily walk unaided, she even went on holiday and to the beach! She even thought that maybe she could work again.
• Middle of September comes and the effects of cortisone start to fade away, she now slouches when walking again, her steps get smaller day by day and she is in pain again. Also has some swallowing difficulties, but she is still able to eat.Doctors decide to give her cortisone again in October.
• This time, her reaction was not good. For the first couple days after the cortisone treatment, her oxygen levels dropped and she had to use an oxygen tank. After that, her oxygen levels were normal but she had elevated PaCo2 (48 mmHG), which made her breathing a little harder. Doctors say it was because cortisone temporarily weakened her muscles. Her movement was also slightly impacted as the weeks went by, but she could still make some steps, slowly. Doctors prescribe Copaxone to her and she gets it day after day since December 2023.
• Her oxygen levels were pretty good until last Monday, when, after a physiotherapy session, dropped to 88. We took her to the pulmonologist to measure gas, her PaCo2 levels were 52 at this time, but she had the cortisone in October, so it can't be the reason. Doctor provides her with a cpap to wear during the night and she gets it last Saturday.
• AFAIK she's doing a little better with the cpap, even though she isn't used to it yet, so she wears it for a couple hours during the night and another couple hours during the day. She is seeing some small improvements, regarding breathing and speech. (Oxygen levels 90 while laying down, 92-93 when sitting and 95 when using the cpap).

My question is, is it ALS, MS or both causing this?Will we ever find out? How? Has this occured to anyone else?
On the one hand, EMG shows abnormalities consistent with ALS and the fact that her health deteriorated so much within 1 year points to ALS. However, MRI and CSF point to MS located in the medulla oblongata, which could be responsible for her speech, elevated PaCo2 levels and swallowing and also abnormalities in the EMG. Could MS progress so fast in one year that she ended up using a cpap machine, though?

Again, I know this is maybe not the right place to ask for specifics, but we are truly frustrated and worried. Doctors here have barely seen ALS patients, let alone such an unusual case, so your opinion could possibly make a huge difference. If you need any more information, I will gladly provide it to you.

Thanks a lot in advance and sorry for my poor English!
I wish all the best to you.

 

[lgelb]

If you can post the test results without her name, that would be helpful.

MS and ALS can both cause sleep-disordered breathing.

If she has ALS or any neuromuscular disorder, though, she should be on BiPAP, not CPAP, especially with signs of CO2 retention.

Have you consulted this center:

Unit of Neuromuscular Diseases University Hospital of Patras Rio 26504, Greece
Contact	E. Chroni or D. Veltsista
Phone	+302610999570
Email	[email protected]

 

[SkunkGR]

Thank you so much for your reply. Which test are you referring to?EMG? I will post it as soon as I find it, since we do not live in the same house.
We have not consulted this center, but they did go to Athens, where doctors told them that having both disorders is unheard of, yet technically possible.

 

[SkunkGR]

Alright, so her most recent EMG reads as such (translated from Greek to English, so there might be a few mistakes here and there):

Brief history - Important clinical findings: Possible motor neuron disease. Re-examination.

MOTOR NEUROGRAPHY: Normal compound muscle energy potential, final latency, conduction velocity (TA) and wave latency F in peroneum and tibial left. Conclusion: No damage to motor fibers in the peroneal and tibial is revealed left. SENSORY NEUROGRAPHY: Normal potential and TA in the superficial peroneal left.
Conclusion: No damage to the sensory fibers of peripheral nerves is revealed.
ELECTROMYOGRAPHY: Recording of signs of acute denervation in the anterior tibial on both sides of the gastrocnemius on the right and on the left side of the tongue. Severe chronic neurogenic reorganization of motor units in the right anterior tibial and gastrocnemius left. Moderate chronic neurogenic motor reorganization units in the gastrocnemius and first dorsal interosseous on the right, on the tongue on the left and in the deltoid amph. Mild chronic neurogenic reorganization of motor units on the anterior tibial left.
Conclusion: Neurogenic damage to 4 limbs and tongue with signs of acute denervation in 4 muscles.
GENERAL CONCLUSION: As in the previous examination, chronic or subacute neurogenic damage to 4 limbs and tongue; These findings in combination with spastic and lively osteotendon reflexes, especially in the upper limbs, as well as Vivid masseter reflex is compatible with motor neuron disease.

So, yes, the only thing she has been diagnosed with certainty is Multiple Sclerosis and she is receiving treatment for it, now we are trying to see if she has both Multiple Sclerosis and ALS. Or... if she has something completely different which leads to demyelination in basically her whole brain and especially the medulla oblongata, Oligoclonal Bands and this mess.

Thank you so much in advance.

 

[lgelb]

The center I listed is expert in MND for Greece. So I would contact them.