What to possibly expect?

[hedwig180]

Hello,

My neurologist dropped a bit of a bomb on me today, and I felt compelled to post here.

I've been under high suspicion for MS for two years now, but some pieces of the puzzle just aren't lining up and it's been a long period of observation, more or less. It started with left foot drop from which I have never recovered (I now wear a brace for it). A ~year later, my left arm and hand/fingers are weak, which is a major frustration as I am a musician. I also have frequent painful cramps in my left leg/foot and it constantly feels quite stiff. Most recently, my right ankle seems to be weakening.

- I've had a few MRIs -- my latest brain MRI shows a few spots of nonspecific intensities, nothing that screams textbook MS. I'm due for another full spinal MRI next week.
- I had a lumbar puncture several months ago (normal)
- I had an EMG/NCV test a year ago that showed only nonspecific and mild issues with nerve amplitude and a few other things...I need to go look at the report again, but no one ever seemed to think it pointed toward anything in particular.
- Blood tests are normal.
- Reflexes are actually very reduced (is this a finding with PLS? or would PLS be more hyper reflexive?)

After my appointment today with my MS specialist, he told me that if my spine comes back without any detectable lesions, we need to begin looking at other possibilities. One thing he mentioned -- due to my progression and the fact that I have been slowly progressing through 2 years -- was PLS (or perhaps even progressive MS, if more lesions are found)

However, I am a 28 year-old female, which, as I understand it, is a bit outside of the common age bracket for this thing, so I am doubtful. Have any of you heard of anyone in their late 20's/early 30's being diagnosed with PLS?

Would he need to refer me to some sort of ALS clinic to be evaluated, if it turns out that my spine looks good?
Can EMG/NCV studies be normal in people with PLS?

I'm sorry that this post is a little nebulous, but thank you for reading.

-

 

[Trippy]

Hello Hedwig,

I'm guessing you were/are a Harry Potter fan? : )

Sorry to hear you are going through this, especially at such a young age. My first thought after reading your message is: is your neurologist a neuro-muscular specialist? If not you probably need to get re-evaluated by one.

PLS is Upper Motor Neuron disfunction/degeneration with spasticity and hyper-reflexes as major symptoms. ALS is both Upper and Lower motor neuron degeneration. Lower motor neuron signs are primarily clinical weakness (diagnosed in a clinical setting) and muscle atrophy. Abnormal EMG tests, along with clinical observations, is the way ALS is diagnosed. Most people with PLS have normal or only slightly abnormal EMG results.

I hope you get some answers soon. Most of us on here have been on, or are still on, the diagnostic merry-go-round. Very frustrating.

 

[Trippy]

P.S. sorry, I re-read your note and see you are being treated by an MS specialist. Still, you might want to get a referral to Motor Neuron Disease specialist to see what they have to say. Also, it's unusual but not unheard of for someone your age to develop MND but stay positive--it might be something else.

 

[lgelb]

Sorry to hear about your impairments, Hedwig. To answer your questions, yes/yes/yes. MS seems unlikely. There are several other possibilities besides PLS at your age, but from what you have said, I get why it is one of the dx on the table. Did you ever have a muscle biopsy?

Best,
Laurie

 

[hedwig180]

Thank you both. And yes, I am a Harry Potter fan! Grew up with the books. Plus, it's a great name.

lgelb, are you saying that diminished reflexes can be seen in PLS? Most things I am reading say it's the opposite, but then again, I'm not actually finding a ton of info (and some of it contradictory).

I haven't had a muscle biopsy. Can this give a definitive answer?

 

[billbell52]

It is VERY rare to have it in your 20's but not unheard of. There are 2 studies where one had it 23 and another had one at 25.

 

[lgelb]

Reflexes on exam don't mean that much in and of themselves. They change or are "read" in response to all sorts of things. That's why they're not part of any official diagnostic criterion for ALS or PLS. Research does suggest that hyporeflexia is more often seen in ALS than PLS, but not entirely.

We do have at least one young woman here with some sort of UMND, and a couple who I'd think are in their 40s.

It is rare indeed overall and so merits reconsideration (second, maybe third opinion) no matter what your age/gender.

No, the muscle bx is not usually a part of the PLS dx. It is used to rule out other things. Because of the history you described, I thought you might have been worked up for hereditary myopathies, though there may be features I don't know about, esp. in the EMG, that ruled all those out.

Anyway, I'd make sure you are referred to a neuromuscular center next. There are certainly fine choices in NYC.

When you cramp up, does anything help it go away or do you have to wait it out?

Best,
Laurie

 

[hedwig180]

Thanks for your detailed reply, lgelb!

I can't see my MS specialist again until Dec 1, so I've been trying to compile a list of things to ask him on that day, as I am not really expecting the full spinal MRI to show anything (I had one many months ago that was fine, save for some mild thoracic scoliosis). So, I'll ask about a neuromuscular specialist, and what he thinks about the older EMGs, and all of that.

The only strange thing with my brain MRIs is that the newest one has shown one additional spot, a bit smaller than a grape, but once again it was nothing that particularly convinced him of one thing or another.

I have not been worked up for anything hereditary yet...I assume my doctors before now have been so fixated on ruling in/out MS, as it is indeed the most common culprit for these issues in someone my age.

As far as my spasms, they come in waves mostly at night, but occasionally as I am going about my day. They'll effect my lower calf area, and the top of my foot causing my second and third toes to contort, as well as the bottom of the foot -- pulling my big toe down. Massaging the areas seems to help, but not always. I usually end up just riding out the pain.

Another thing I want to ask him is the possibility of this being functional in origin, and how to ascertain if that is so. I haven't gone through any recent emotional traumas, and when my symptoms first appeared I was quite content otherwise, so I'm not fully sold on this idea, either. But, I am really tired of this diagnostic go-around and just want to get better already...or at least know what is going on.

 

[Nikki J]

Have you read Laurie's stickies about getting a diagnosis and first clinic visit/ 2nd opinion? They are near the top of the do I have ALS and General subforums. They should help you organize for your visit It is great to be prepared. I am sure you have learned that you get a lot more out of your visits when you are prepared.

Functional medicine is fascinating to me. I expect there is a clinic or at least a specialist that you can ask to see for a consult. My hospital ( Mass General in Boston) has a clinic specifically for this. The doctor who runs it has a dual specialty in neurology and psychiatry. It is great you are open to considering all the options It does sound like there are quite a few directions to be explored especially the hereditary issues

Good luck and keep us posted