Differential diagnosis towards MND

[Salomeaa]

Hello. I`m from Poland - Poland is located in Central Europe - next to Ukraine
I'm 36 years old. 18 years ago my grandfather died of ALS in my arms.
I have been diagnosed neurologically since February this year.
The first neurologist stated that there is damage to the pyramidal pathways - the upper motor neuron - I have all possible pathological symptoms, Babinski, Hoffman, I have no abdominal reflexes, exaggerated tendon reflexes, muscle weakness mainly on the right side. On the first visit, the neurologist found pyramidal drift on the right side

The neurologist after a neurological examination wrote me a diagnosis - MS. With this diagnosis, I was referred for an MRI of the brain.


There was an MRI of the head, which came out clean - no demyelinating, vascular lesions.
On Monday I had a carotid doppler ultrasound and the radiologist looked at my MRI and said he saw old periventricular demyelinating lesions.
In the neurological examination -babinski syndrome is still present, the clonus of the feet has arrived (it makes life difficult). Since February, I've also been rocking with muscle weakness and fasciculations, mainly in the legs, but they also happened around the ball of the thumb and collarbone (but it's rare). At the last visit, the neurologist just looked at me and asked how much weight I had lost in October alone - 6 kg. I have no appetite, I have problems with eating and swallowing.
I also visited a psychiatrist because I suffer from pain caused by spasticity in the muscles in my spine (I was given psychiatric drugs, duloxetine for this) - I try to be constantly active - in October we even went hiking in the mountains.
My efficiency was maybe 1/5 of what it was in June


I am currently on sick leave, I am unable to go to work, work, sit or stand longer, my leg muscles are getting weaker, I am tired of basic activities

The neurologist has now given a referral for EMG - ALS. I'm a little scared.
I was an athlete, I have completed two yoga teacher training courses, I walked in the mountains, I ran. Since October, I have lost 8 kg.. I can see that my muscles are losing weight (but I don't exercise now because I don't have the opportunity), I can't get up from a squat, I have a problem getting up from a chair sometimes.

I have an EMG test on Monday - I'm very scared. I don't know what's next. What will I do then?
I'm unable to work - I don't want to complain, but this situation has completely changed my life 180 degrees.
Blood tests for myopathy - creatine kinase, CRP came out very low.

The neurologist ordered an EMG for ALS because he does not like the picture of my neurological examination (worse compared to what it was 2 months ago) in relation to the MRI of the head.

 

[Nikki J]

Let us know what happens. good luck

 

[Salomeaa]

Can You help me? My husband insists that I stay home, rest, and give up the things I enjoy - I love going shopping every week, being in my garden - he wants to take it away from me, he says it's tiring me out and I should lie down and rest . I want to live ... even though after the walk I lie down or sleep, this walk gives me so much ... Please help me - I haven't had such a low as today. I'm afraid of this EMG.

I know that my husband cares about me, he is also terrified of what is happening, first MS diagnosis, now suspicion of MND.. but I cannot be a prisoner..

I watch movies on Netflix, series - it makes the mind stop thinking, I feel better - my husband doesn't like it either - he wants me to meditate, focus on myself, regenerate. We had a fight this morning - he has a different vision of "healing me" than I do..


Sorry, had to throw it out somewhere.

My parents don't know I have suspected MND, they don't even know that I've been diagnosed with MS for so long...

When I wrote to my friend that they suspected I had MND, she stopped talking to me.

 

[Nikki J]

IF you have ALS you still should be somewhat active. Regarding exercise the guideline was given was if it takes more than an hour to return to your baseline you did too much. you might need a shorter walk but you shouldn’t have to stay in. There was some interesting work on mindfulness benefits in illness and many PALS do meditate.

Monday isn’t long so you will have more information soon. Can you compromise with your husband and try meditation or mindfulness but also keep up activity? Both would be good for you no what what you have for a diagnosis

 

[lgelb]

As you say, your husband is probably frightened and looking for answers, and sometimes friends do not quite know what to say.

If you say to him what you said to us, I am sure he will come to understand that living life while you can is the most important thing. You might also ask him what his own preference would be, were he to be in the same situation. Let us know what the results are on Monday.

 

[KimT]

I'm sorry you're going through this long diagnostic trek but I do understand how it feels. I was also very active, a runner, played competitive sports, and was happy in all aspects of life. Going through the diagnostic phase was worse, for me, than the actual knowledge I had ALS.

I had to adapt and continue to adapt to my limitations. I didn't stop what I liked doing until I couldn't do it anymore. Some of your fatigue may be coming from the stress and going through all those tests. I'm so sorry you're having to go through all this testing at a young age.

For me, it helped a great deal when I spoke with other people who had the disease. Whatever your diagnosis, try to just keep on living life to the fullest.

Also, it's okay to see a counselor and get meds to make you feel better.

I had different reactions from different people. Some very surprising.

Hoping your EMG is negative for ALS.

 

[Salomeaa]

Thank you from the bottom of my heart for all your answers and keeping your fingers crossed for me! I couldn't write anything earlier - the algorithm was holding me back.
I had an EMG yesterday.
The doctor has over 30 years of experience in performing EMG tests. There was a guy in front of me who was screaming and howling (I don't know what they were doing to him but I waited an hour for the scan because there was a delay and I was stiff with fear). First, the doctor took an interview, looked at my documentation, MRI result, asked under what circumstances the diagnosis of MS was made - he asked if anyone in the family suffered from neurological diseases - he was very worried that my grandfather had ALS, he showed great compassion - which I appreciate very much. The technician prepared me for the procedure, the doctor carefully examined my body and according to him I do not have muscle atrophy in my legs - he also ordered me to undress my blouse, but I could only do it for a moment, because I was so cold that I was shaking all over and they could not perform the examination (probably they didn't heat the building..)
The electrocution treatment was extremely pleasant. The technician was nice and only reassured me, telling me that I was doing great and that women are braver than men
Then the doctor started his neurological exam, which was extraordinarily long - reflexes, all that tickling in the feet, he did it extra long and thoroughly. They then said they would examine the quadriceps of the left thigh. They inserted a needle and told them to tense and release their muscles. Then the doctor lifted my leg, it took a while, but I survived, it's absolutely not pain! After the examination, the doctor said that the upper motor neuron was damaged (he found this after the neurological examination), I have a damaged peroneal nerve in my left leg and that's it. I'm supposed to go to my neurologist with the results. The record contains an annotation that the quadriceps muscle shows no pathology, damage to the peroneal nerve and pathological symptoms present on both sides (Babinski and Rossolimo reflexes), increased deep reflexes.

I have an appointment with my neurologist on Thursday, so we'll see what he says.
After the examination I feel terribly tired - because of this cold I got spastic, but it's ok. The doctor didn't say I had MND, he didn't tell me anything - I didn't ask either because I guess I was afraid to ask. They were very nice, caring and you could see that they care about the patient, which is rare.

As for how I feel - still unchanged, in the morning I am tired of choking (I have the impression that the air, talking already makes my throat irritated and I choke and choke), I have no strength, I am terribly tired. I lie down for 22 - 23 hours a day and watch Netflix.. I lost another 2 kg, including 1 kg yesterday after this test probably from the cold! My biggest fear is that the doctor will refer you to the hospital.

I am very grateful to you for your help and support! That you want to devote your attention and time to replying to a girl from Poland! It's very nice!

 

[Nikki J]

I hope your neurologist is able to give you some answers. You knew you had upper motor neuron signs before this of course. Peroneal nerve damage is very common and can sometimes be due to something as simple as crossing one’s legs too much. That doesn’t explain all your issues t. it is encouraging they didn’t find anything else on the ncs/ emg though. Let us know what the neuro says

 

[Salomeaa]

Thank you from the heart for your answer!
Yes, the doctor said the same, due to the sporty lifestyle I led - damage to the peroneal nerve is a piece of cake and has no effect on my current condition.
I talked to another neurologist friend (on the phone) and he said that I should do an MRI of the cervical spinal cord for sure, he also recommends the thoracic one - if it comes out clean, then a puncture of the cerebrospinal fluid and if there are no striations, then he is for it that it may be Primary lateral sclerosis (PLS), where the prognosis is good and there is a chance that it will not turn into ALS

No sensory disturbances, no vision problems, continuous worsening of symptoms, according to him, points to PLS rather than PPMS

I'm going to talk to my neurologist on Thursday and see what he says.

 

[KimT]

It certainly sounds like it might be PLS. Right now, I'm more worried about your exhaustion and weight loss. Are you underweight? If so, you probably should drink some smoothies to at least maintain your weight. Losing weight will make you tired. Has your GP checked your B-12 and D3 along with your general blood work?

I hope you get answers from your neurologist. Happy that ALS is off the table.

 

[Salomeaa]

Hello, thank you for your reply.
Dear KimT - my blood tests are perfect, I'm not anemic, vitamin B12 and D3 were also tested - all upper limits of normal, vitamin D3 level high. Enzymes that are high in myopathies - low in my results.
I was at the neurologist yesterday - unfortunately I am not satisfied with the visit, which lasted only 2 minutes (I paid as for a normal visit..), the doctor saw the EMG result and said that I had to go to a MND specialist (including neuromuscular diseases), prescribed PREGABALIN, which I have to eat for 2 months and that's it.
He asked how I felt - I said no change, that I am tired of stiffness and pain now that it is winter here, it bothers me more, I still have problems with choking in the morning (even the air while talking makes my throat gag reflex not to mention brushing your teeth, for example.

Unfortunately, the doctor did not perform any neurological examination yesterday. He sent me home with a prescription and a referral to an MND doctor.
I found a lady from MND diseases, I managed to sign up for an appointment, even though the doctor no longer accepts new patients. I have an appointment in mid-January. The doctor did not extend my sick leave from work. I'm in dead end.
My weight is still flying, I'm not underweight yet, but within a week 1 - 1.5 kg goes down.

Now all I have to do is wait patiently for an appointment with an MND specialist.
Fortunately, I have access to medical marijuana (they already qualified me for medical marijuana when I was diagnosed with MS) and that helps with the pain, spasticity, and choking. I have to vape the marijuana in the morning after opening my eyes, otherwise the choking is terrible - the doctor said it's probably due to spasticity as well - the throat reflex, but it's tragically unpleasant.
I don't like to complain but I currently live with stiffness, pain, choking every morning, I can't function without marijuana (pain is so bad) when I try to exercise it only gets worse the next few days - after exercise my stiffness and pain doesn't go away it just INCREASE.

In Poland, doctors do not prescribe marijuana during visits, you need to visit a marijuana clinic to get a prescription. In the clinic where I am, they try to cooperate with the patient and respond to his symptoms - now I got a new herb for vaporization and a different THC oil - to strengthen the inhibitory nerves in my nervous system - that's how I understood.
I don't know whether to take this Pregabalin.

Thank you so much for your support and every post - it means a lot to me.

I managed to contact one woman in Poland via Facebook who also has a diagnosis of PALS - for 6 years they gave her MS drugs because they couldn't diagnose her. I'm terribly afraid that I'll have to be suspended for so long. I am unable to work as before - I do not have any documents, confirmation of the diagnosis - I cannot apply for a pension or insurance cover. I guess that makes me very sad.

 

[Nikki J]

I am sorry your appointment was disappointing. Hopefully you will get answers from the new doctor.

pregablin is a strong medication. None of us can tell you whether to take it but I expect the doctor prescribe it to help your pain. It also can have a side effect of weight gain which you would like

the things you say- waiting for the specialist and no disability without a diagnosis are common elsewhere too. And here in Massachusetts where I am medical marijuana is also not usually prescribed by the regular doctors as doctors need a special license that most don’t have or want. So you are not alone in those struggles

 

[KimT]

Same in Florida. When I was first diagnosed, cannabis was illegal in Florida. A few years passed and they legalized it for medical purposes. We have the same thing. I have to see a specialist trained in medical cannabis for my refills. Insurance doesn't pay nor is it deductible for Federal income tax purposes. It isn't cheap but I only take a small amount.

I do know that it works for pain and for sleep. I take CBD oil to relax. It helps.

I know spasticity can be very painful and troubling. I'm lower motor neuron dominant ALS so I don't have much of it but I do get bad cramps and non-stop fasciculations.

I hope you get answers from the specialist in January. I know waiting is very hard, especially when you're in pain. I'm sorry you're going through all this.

 

[Salomeaa]

Good morning
Thank you for all the support I receive from you
my husband got nervous and signed me up for an appointment with a neurologist, who I visited last June - he examined me thoroughly
- weakness of the muscular strength of the limbs on the right side - he noticed that this weakness is greater than it was in June, unfortunately there is a progression of weakness here, pronator drift (also known as pyramidal drift)
- pathological symptoms are still present in all four limbs, Babinski sign, Oppenheim sign, Chaddock reflex, Hofman sign.
- exaggerated symmetrical tendon reflexes
- he suggested MRI of the cervical and thoracic spinal canal be done as soon as possible with contrast, and then there was a puncture of the cerebrospinal fluid.
He recommended not to take this Pregabalin though.
I made an appointment for an MRI scan, if there are demyelinating changes, we're going back to MS, if it comes out clear - then I have more medical records when I go to see a motor neuron disease specialist in January.

 

[Salomeaa]

Hey, I haven't written in a long time, nothing new with me. I am waiting for an MRI which I have on 20/12
Spasticity and pain still bother me, I'm tired all the time. My head won't let go - I think that in the spring I will start running 10 km a day again, practice yoga intensively, work in the garden ... my head does not understand at all ...