Possible diagnosis

[popovany]

Hello to all lovely people here. Firstly, I want to apologise in advance for my not so perfect english, it is not my first,nor my second language but I will try to be as clear as possible. For 2 months I have hestitated to post on here because I didn't want to intrude before someone actually considered an ALS diagnosis.

I am a 26 year old woman. My symptoms began in late March this year with weakness in my left hand,dropping things, trouble holding a glass of water. At the same time I began twitching all over my body,short twitches,long twitches,buzzing,vibrating muscles, spasms.Of course, the first thing that popped up on google was ALS but I didn't want to get ahead of myself at that point and feed my anxiety. In a matter of a week my right hand gave out as well. I started having constant 24/7 twitching in both my palms and my left leg. At that point I made my first neurology appointment and was told my reflexes were brisk and was sent for an EMG.

The EMG was performed on my left arm and left leg, it showed strongly polyphasic low amplitude short duration motor potentials only in my proximal muscles. The EMG specialist told me it looked more like myopathy to her and only in the proximal muscles.

I saw my neuro again and we conclued that the myopathic changes in proximal muscles were a result of a virus I had 6 months ago that did make my proximal muscles fatigued, but I recovered from it. She could not explain the distal muscle weakness I was experiencing and sent me to a rheumatologist. I was hospitalized there, had multiple blood tests, CPK normal and all myositis antibodies normal, had MRI of head-clean. Was reffered back to neurology. During that time (from late March to now)

I developed a drop foor on my right leg,twitches on the face,tongue, cramps in my forearms, my hands age getting weaker,can't write, can't do buttons or any fine movements. Started having a weak jaw when eating and I only slurr when tired for now. A month after the first EMG I had another one,it showed something about F- waves being late in my left hand.

The rapid progression of my symptoms made me make an appointment with an ALS specialist just for a peace of mind.I was abolutely sure he will convince me that I did not have it, but unfortunately that wasn't the case.

I told him my symptoms, he did a neurological examination and was stunned at my reflexes. He said my reflexes were not brisk, they were HYPER, he was concerned about that and said that this was not normal and that this is not myopathy. What I understood is that I don't have Babinski, nor Hoffman's but hyperreflexia. He performed weakness exam and concluded I have foot drop and clinical weakness in my hands. He looked at my hands and said I have typical changes in my palms( don't know what that means) All I know is that I have slight atrophy in my right palm, the skin also has become very thin and my veins are popping out, he mentioned something about the form of my hands. He had some weird light in the office and when we looked at my palms we could see clearly fasics in a lot ot places crawling under my skin, I am not feeling those and could not see them at home with my ordinary lighting.

He also looked at the EMG and said that yes,there is no denervation for now but it also didn't look like myopathy to him. He then said something pretty concerning. He said that PALS under 30 usually don't show typical signs in the beginning and the EMG is also not typical for young people with ALS. He had several young patients with ALS and none of them was typical in the beginning. Of course, he said it doesn't mean I have it but he is afraid he cannot rule ot out for now. I am going to be hospitalized on the 19th of June for "observation".

I am very very scared, I was not ready for the outcome of that appointment. Whatever I have is progressing very very rapidly. In a matter of 2,5 months I aready have 2 hands that are going away,drop foot,weak jaw and fasics.

I don't know what to do, what to expect, is it ALS, is it not? Is there any other test I should perform? Did the EMG miss it because I have bulbar onset? I thought limb weakness was considered LMN sign but I did some research and weakness of extensors and flexors in hands and legs is considered UMN sign. I am very confused and scared. I can't imagine what all of you are going through. I pray they find a cure soon.

 

[popovany]

Please anyone?

 

[Nikki J]

I am sorry I know you are scared. Understandably so if I understand correctly what you were told about young onset. This is not anything I have heard talked about by neurologists whose backgrounds I know and trust. I don't know how good your doctor is. I do know young people who have ALS and diagnostic EMGs

Other tests? Mris of spine and brain? Lumbar puncture?

IF ( very large if) this is ALS no it is not bulbar onset. You report the first symptom was in your hand. So an EMG should have shown it.

We can't second guess your doctor. I know at Mass General where my doctor is, it is not ALS without a supporting EMG. Your doctor is aggressively investigating this. I hope they find an answer quickly for you. (And your English is superb)

Good luck. Let us know what they find

 

[KimT]

Hello,

I'm so sorry you find yourself here questioning the findings on your tests. I have never heard of age having an effect on EMGs.

You have moved forward into finding what is wrong and your anxiety is entirely normal. There are still many tests you have not done and, hopefully, one or more of them will point to something other than ALS.

Hoping for the best. Please keep us posted. We care about you.

 

[popovany]

Nikki J and Kim T, thank you a lot for taking time to respond to my thread.It means a lot to me.

I also heard the young thing for the first time and was surprised. The emg specialist who made the two EMGs reassured me that I have no sign of ALS or other neuromuscular disease, she said I have very diffuse myopathic changes that were very hard to even find. She would poke 3-4 time the same muscle just to find abnormality. At least that is what she said. Unfortunately, the ALS specialist was not on the same page as her. He said he is not certain that the emg is interpreted correctly enough or it might have been made too early. The first one was made 2-3 weeks after the symptoms started and the second one a month after the first one and the only change was it showed something about F- waves being late on my left hand. The test was also performed only on the left arm and hand and leg, no back or bulbar areas.

The scariest part is my symptoms are progressing day by day literally. I also developped weak neck and pain because of that because my head feels heavy to carry. Also,my overall body is kinda heavy. In the evenings when I lie flat on my bed I get these episodes where I can't breathe,they last for about an hour. They could be anxiety though. I guess they will check my breathing in the hospital. The main symptoms remain a foot drop and hand and forearm weakness. The strange part is it startedin my left hand but now my right one is worse than the left one. But the left one twitches in more places.

I was wondering what changes happen within the hand except atrophy and fingers curling up. I keep wondering what did he mean by 'I can see typical changes in hands'.My fingers are not curled up yet but I do put them in a weird weak position when relaxed. Slightly fingers inward,I do it subconsciously because of the weakness. Does the skim change somehow? Mine has become very thin and veins pop out,may be that is what he meant, or I am losing shape in hands.I don't know I am very scared and suffering from anxiety doesn't help.

 

[Clearwater AL]

Popovany, at this time the most prevalent issue you are suffering from is anxiety,

" In the evenings when I lie flat on my bed I get these episodes where I can't breathe, they last for about an hour>

What is happening is that your body wanting sleep overcomes your anxiety. Any MND related breathing issue do not pass after an hour or so.

**Then you wrote, "The emg specialist who made the two EMGs reassured me that I have no sign of ALS or other neuromuscular disease."

Finally, "Unfortunately, the ALS specialist was not on the same page as her. He said he is not certain that the emg is interpreted correctly enough or it might have been made too early. The first one was made 2-3 weeks after the symptoms started and the second one a month after the first one."

That is really a stretch for a third Neurologist to dismiss TWO previous EMG studies.
I hope he/she isn't trying to pay off the yacht.

Hand issues can be so many other problems unrelated to ALS.

Take a deep breath , find something to occupy your time and follow up with your Neuro until then.

 

[popovany]

Clearwater Al, thank you for the response but I can assure you the anxiety is not the only thing happening on here. I have clinical weakness in both hands,slight atrophy in one of them, a drop foot and hyperreflexia confirmed by a neuromuscular neurologist, I can't walk on my own because if I step on the weak leg I fall and it also drags along. I really wish all that was just anxiety but unfortunately it is not :/ I do suffer from anxiety as well, I won't deny that. That is what makes it even harder. For the breathing part it can be anxiety though.

 

[Clearwater AL]

Let me give you another consideration that may help you think of something besides ALS. Have you had an MRI of your upper spine? And your middle spine?

A lot of what you describe could very well be a disc issue. You have written that two EMGs have cleared you of ALS. Maybe, just maybe... you need to see a good Ortho specialist.

Please don't go on a Google search of this... let your Neuro do his job. I have a confirmed diagnosis of Upper Motor Neuron Disease but... I have all the indications of "Split Hand Syndrome" (once considered and early indicator of ALS) in my left hand. The muscle between my thumb and first finger is gone. In the natural position my thumb sticks out, between my famous middle finger and my ring finger the web is diminished, there is a 3/8"gap there and between those two fingers at the top is a 2" gap. I have not been diagnosed with ALS.

Again, let the Neuro make the determination and consider the likely hood your issues are disc or spine related which are treatable. When it comes to ALS there are so so many things else it could be. Give hope a chance.

PS. Quick question... were you told by either Neuro they determined "clinical weakness"?

 

[popovany]

Hope is all I have left. I still hope for disk problem or either some very atypical presentatiom of some type of myopathy. I thought about the disk thing but I also have neck and jaw weakness and fasics in face and even tip of tongue. But I should get an MRI of the spine for sure. I had only one of my head. The muscle you talk about is the one part of my hand that is a little wasted too and also my thumb muscle has flattened on my weaker hand. The pinky on my right hand kinda wants to hang out on its own,it won't join other fingers. Is that a bad sign?
What does your EMG show on that hand? And isn't the hand thing a LMN sign, you mentioned being dagnosed with Upper neuron disease but what they say about your hand? I hope they made a mistake.

 

[Clearwater AL]

I had two EMGs that were abnormal BUT did not indicate ALS. It's complicated. Most important to all readers... an abnormal EMG does not always indicate ALS. Neuros know what positive indicators determine ALS.

The EMGs were done on my right side. But... as you may have read in many replies by very knowledgeable members if ALS is present, 99% of the time which side the EMG n was done makes little difference. A Lower Motor Neuron issue will show on both sides regardless to which side presents clinical weakness first. (Maybe someone may correct that... as I understand it.)

As for my left hand... I go to an ALS Clinic and I leave the monitoring of my progression up to them.

 

[popovany]

I saw the question now. Yes, clinical weakness.

 

[popovany]

Neck weakness is getting worse too

 

[popovany]

Hello again. I promised I would update you on my situation at the hospital. During the week leading to hospitalization I got weak neck which ended up in a head drop. Now I can't carry my own head. I had another EMG in the hospital but not of my neck, they poked my hand im 3 different places and legs ohh and they poked my tongue as well. The good news is there is no sign of MND, I have some type of myopathy which is very atypical and noone knows what it is. Unfortunately, they don't do muscle biopsies in my country so I can't tell you what I have. All I know that it is not myositis or hormonal. So that's it for now, it is progressing kinda fast hope it stops soon.

 

[lgelb]

Thanks for checking in. If they are not sure what kind of myopathy you have, you may want to ask about an "empirical trial" of steroids, which could help if it's an immune-mediated type.