Sister with als?

[Jona]

Hi. Would appreciate your opinions. I have a 53 yr old sister who started complaining of a squeezing around her rib cage 3 yrs ago. (no previous medical history and very active). Since then, symptoms have progressed to a burning in her hamstrings. Started on the right and has since moved to the left. She has a lot of difficulty walking. Says she tries to make her legs move and they do not respond. When she's sitting in a chair, she cannot lift her legs up. She has a burning/tingling sensation to the point she can't stand to have her feet touch the floor or sit on a chair without a special cushion. Now she's having difficulty swallowing and has a nystagmus in her lateral gaze. She has had an MRI of the brain and complete spine. Her neurologist sent her to a neurosurgeon who says her MRI of her back does not explain the extent of her weaknesses. Her emg shows a myelopathy. Our dad passed away 35 years ago from als and I know it's very unlikely lightning will strike twice but does this sound like it could possibly be what we're dealing with?

 

[Atsugi]

Squeezing around rib cage? Not something I would associate with ALS.
Burning hamstrings? The new onset of ALS isn't known for that.
Legs not responding? Very bad, could be several things.
Burning/tingling? Sounds like possibly a peripheral neuropathy, which ALS is not.
Swallowing? Depends on why and how the swallowing is affected. Any doctor can order a swallow study.
Nystagmus? Never heard of this in ALS.
Myelopathy? Aha! That's a real contender. A diagnosis of myelopathy would explain the weakness in the legs.

Sorry to hear your sister is suffering so badly. If she's already had an EMG, then the neurologist has had the opportunity to see ALS signs, and apparently didn't, or she would have been worried about that.

I'm not a doctor, but this doesn't sound like ALS to me at all. Is it possible that she has both myelopathy and ALS? Well, not really. The neurologist and EMG would have picked it up by now. So I'm betting on no ALS.

 

[Jona]

Thanks for the response. Can I ask, what would be the results of an emg that would point towards als? From my understanding, diagnosis is usually made by exclusion. Thanks again.

 

[affected]

Jona,
The EMG will have lots of stuff hard to read, but there will be a summary at the end of it that will say what the stuff means, like whether it is indicating ALS.

Yes ALS is a diagnosis of exclusion, meaning they will do a lot of tests for many other things first. If these are all negative, and the examination shows clinical weakness, atrophy and neurological signs, then this combined with an EMG that shows the changes ALS causes will give them a clear picture of what is happening.

In other words, a neurologist will not simply order an EMG and pronounce ALS. They will examine, do many tests, and come to a definitive diagnosis.

It sounds like the EMG done had a summary saying that the results showed there was a myelopathy. Her symptoms support the EMG findings.

Hope that helps

 

[Nikki J]

It is often said ALS is a diagnosis of exclusion. That is a half- truth I believe. To make the diagnosis of ALS there have to be specific findings - upper and lower motor neuron findings - upper are usually found on exam, lower on EMG. Once you have those things other causes must have been excluded before they call ALS

On the EMG they are looking for a specific pattern in the abnormalities. Your sister's emg may show some fibs or psws? That does not automatically translate to ALS and seeming did not here. How was the ncs?

Is she getting a second opinion from a neurologist at a teaching hospital? It really does not sound like ALS but she needs to get a firm diagnosis and plan clearly.

Sorry about your dad

 

[Jona]

Thanks for all your input. I don't know the specifics of the emg as I'm only getting second hand stories of her doctor appointments. Yes, she will be getting a 2nd opinion eventually I think but she is still kinda in the midst of trying for a diagnosis with her current doctor. Whatever it is, we definitely need to find out. Thanks again.