Husband recently diagnosed but we are still questionable?

[Praying]

Let me try to give the facts re my husbands experience as we are told by 7+ Dr's that he is tricky...Also I'm a clinician as well so I am very detained in my clinical notes, I apologize in advance)

50 y/o Male otherwise healthy presents with:

• Chronic neck and shoulder pain / stiffness for 10+ years with progression
• Left hand stiffness & numbness right when he wakes up for about 2-3 years
• Persistent & severe Occipital headache a couple mths ago for a good 3-4 weeks but spontaneously subsided
• 2/28/24 Acute symptoms
  • Noticed lack of strength in left arm while working out
  • Significant loss of strength in Left hand over next 2 days and unable to open a bottle of water
  • Referred to PCP who ordered an US for DVT which came back negative
  • Woke up on third day of weakness with fasiculations in left shoulder / bicep
  • Immediately went to ER at Main neuro Hosp in BOS per our pcp who was thinking spinal cord compression
    • Neuro examination found:
      • Hyperreflexia Knee and arm (more on Left affected side)
      • Clonus bilateral with slightly more on L
      • Spasticity in Left forearm / affected L hand
      • Loss of strength in L arm / hand
      • + hoffmans L only
      • + finger escape of L little finger
      • Fasiculations now present in Left shoulder, bicep, forearm, hand, Right shoulder, bicep, Left thigh
        • Literally the fasiculations traveled to different areas as we were sitting in ER
      • L leg inability to contract Left side quad muscle
  • MRI showed severe cervical myleopathy in areas of C2-C6
  • EMG came back all normal
• Urgent surgery scheduled for cervical laminoplasty C3-C7 within days
• 3/15/24 Cervical laminoplasty surgery
  • Great surgery skills but never met surgeon prior to surgery.
    • Did not hear or listen to our medical history and basically just treated off of the images
  • Laminectomy C-3
  • Laminoplasty with metal hindges C4-C6
  • Nothing performed with C7 (not sure why, as symptoms were present from the area of C7, but again never discussed with doc prior and only treated off MRI image)
• Surgery performed and
  • Fasiculations still persistent
  • Left lateral quad muscle now able to contract
• 2 weeks post surgery
  • Revisit to ER as fasiculations now present in Right quad / calf and WE now sought out neurologist
    • One neuro doc said if you are regaining strength its not ALS
    • One neuro doc said I see + and - signs and your reflexes are too brisk for me
    • Refer for follow up neuro apt
  • Repeat MRI which showed nothing significant
  • 
    
  • Follow up with Ortho spine Dr who said all looks great
    • Again only visualized the post op x ray, Post op MRI and said fasiculations may will take time as nerves are slow to recover, but the goal with any injury is to stop the progression of symptoms but they may not get better
• Present time 6/11/24 ( now 13 weeks post op and 15 weeks since onset of acute symptoms)
• IMPROVEMENTS since spinal surgery
  
  • Left hand significant regain in strength. was 2-3/5 and now 4+/5
  • Reflexes are normalizing in U limbs ( right side normal, Left 2 brisk)
  • Hyperreflexia still in both lower limbs but slighlty less than in the past)
  • Clonus much less in both legs
  • Range of motion in upper shoulder, trap, bicep much better
  • Determined strength is dependant upon position.
    • Weakest sitting down, then lying down
    • Strongest when standing
• So we are happy and confident walking into our Neuro apt as we see improvement
  • We called and asked for ALS specialist as we googled too much
• Neuro apt with ALS specialist (Hopeful for someone with many years of experience as his findings are aytypical and a lil "weird)
  • Doc finished neuro fellowship in 2022 (all Dr's in the entire US had a very atypical / disrupted year in medicine from 2020-2022 as the focus was all covid and only emergent apts. I am a medical professional myself so I know how this 32 yr olds last formative years of neuro training were disrupted / lacking)
  • 1st and only Neuro exam performed by this ALS Dr was max 30 min
  • Told us hes pretty certain that my husband has early onset ALS based on
    • L arm spasticity
    • L hand weakness
    • Hyperreflexia
    • Clonus
    • NIFL came back at high @ 129 which basically confirmed his diagnosis (despite confirmed Spinal cord injury noted on MRI)
    • Wants to start ALS medication but is ok waiting 8 weeks
  • We asked what about his diagnosed and confirmed cervical mylopathy which was seen on MRI and more definitive, his strength improved to a 4 post surgery, he can contract his Left Quad and he feels great other than the widespread fasiculations ( which the doc said he really wasnt concerned about as that could be from many other things??)
  • And while he rated my husbands strength as a 4/5 and the prior eval was 3/5 the doc said "my 4 could be their 3"
  • He also said "everyone has stenosis and he has seen things get better before they get worse"
• So now my husband and I are a mess from basically being told hes "reassured" he has ALS and a TOTAL dismissal of his cervical mylopathy symptoms (which by the way are one of the biggest ALS mimics)
  • He physically can manifest his Left leg shaking and walking funny as his anxiety is sky high
  • He can however "walk off" his weird leg so his symptoms come and go
  • 3 Therapists later and after retelling the entire story over and over he is placed on anti-anxiety meds
  • Throwing the kitchen sink at ALS he is having detox and other nerve imrpovement infusions at a homeopathic clinic which along with the meds make his very nauseaus
• Since diagnosis of ALS, now 1.5 mths ago he is overall feeling physically better BUT we are definely more in tune with his symptoms
• So 14 weeks since onset of symptoms here we are:
  • Improvements:
    • Strength significantly regained in L arm / hand
    • Spasticity localized to L arm and elbow down into hand / fingers
    • Classic Myleopathic L hand
      • Very mild intrinsic and extrinsic atrophy
  • What got worse:
    • Fasiculations are more widspread in all 4 limbs
      • This worries him the most as this is the only symptom that is getting worse
    • Walk is funny at times with his Left leg
      • He cant walk fast as it gets glitchy and he has to slow down
      • L leg shakes a lil as he goes down stairs ( but less than before, we believe this is his clonus)
      • L leg hitch, gait comes and goes as he can walk it off at times
    • Anxiety sky high and can manifest shakes and glitchy leg when nervous
• Our main questions are:
  • How can we dismiss the confirmed and accurately diagnosed Cervical Myleopathy
    • Who do we believe? Ortho or Neuro??
  • Was / is it trypical to have such a reassured ALS diagnosis at the first appointment and after a single 30 min examination?
  • Why is walk / L leg worse now??? this is the most troublesome for us
    • Is the disease now spreading / jumping to his leg as the fasiculations are spreading all over?
  • Why are fasiculations still present and in more areas
  • We dont want to ignore his diagnosis and miss out on starting necessary meds
• Looking for advise from those who know this disease best...the families. TY

 

[Nikki J]

1 you get another ALS specialist opinion. I don’t know where you were because the 2022 graduate at mgh doesn’t match your age description but there are good clinics in the Boston area and there is also UMass. While you are at it get a repeat nfl sent to the same lab and sent the same time of day. I don’t know if recent spinal trauma could have that much of an effect

2 no but that nfl number is pretty high. ( see comment above)

3 we can’t answer that. If ALS it does progress of course

4 ditto

 

[lgelb]

The dx criteria for ALS include an EMG that meets specific criteria that obviously a clean one doesn't.

Myelopathy + ALS isn't unknown, nor is an ALS dx post-spine surg, of course, given the average age of onset.

Agree re a second opinion and as a clinician, I would imagine you're aware that homeopathy is based on a disproven scientific paradigm. At best, energy is being expended to metabolize the tx, and at worst could exacerbate his compromise.

 

[Praying]

• TY and I agree with a second opinion.
• Do you have any research findings for NFLI numbers in Spinal cord injuries? and their half life, as that would be helpful
• As for his age of 32 years, please let me clarify. He graduated med school in 2016 so say hes 25 y/o then. Neuro Residency 2016-2020 so 30 y/o and then fellowship 2020-2022 so I said hes around 32 yrs old. Hope that helps.
• Has any one else experienced the ability to walk fine sometimes or get glitchy when walking fast?
• Has any one been able to walk it off? and return to normal walking?
• Has anyone else out there experienced full generalized fasiculations WITH OUT muscle weakness?
• And has anyone received a ALS diagnosis at the exact same time as a spinal cord injury diagnosis

TYSM

 

[Nikki J]

I do not. I know concussion can take several months for nfl to normalize. Repeating it is fairly simple and if it is going down you can follow it.i am assuming it was done a few weeks ago

If you saw MG he is very competent and did fellowship at Wash U where mgh actually sends their nfls so he probably has more exposure than most. Though I am amazed he would firmly dx without emg. Mgh is very by the book for diagnosis

Certainly trying to walk fast makes it harder i suspect this is common for many conditions

In my experience once things start to deteriorate with walking rest is the only thing to make it better. Did you see or ask to see the PT?

Muscle weakness is the hallmark of ALS. Fasciculations are too common to be ALS specific.

It is not uncommon for a spinal cord diagnosis to be followed by an als diagnosis when the symptoms that prompted the first don’t resolve with surgery

Definitely do the second opinion and ask about why no emg.

 

[KatyC]

Hi, I was DX 12-23.. I have a couple similarities with your hubs symptoms.. I don't have muscle weakness. Every muscle strength test is 5/5 … …I get more of a burning tingling feeling in my legs.. when I first wake up and start to move my legs while still in bed I have some spasticity but once I have moved a little it is gone... I have tried Gabapentin for the pain .. no help but made my gate worse.. When my legs are burning, the only thing that alleviates the pain is uphill walking, working in the yard, lugging stuff through a parking lot ,skiing etc..a casual stroll does not help…

I don't have weakness. What I do have is slowness.. and my balance is slightly off.. I can go upstairs forever, going downstairs is challenging and scary if I do not have a railing. My physical therapist says it’s because up stairs is about strength, going downstairs is about control.. I have always been very athletic so this is a huge adjustment..

My EMG was abnormal but not hugely so, my NFL and all other labs have been normal.. My spine MRI demonstrated moderate to severe narrowing C3-C6.. both around my cord and the lamina.. I have a surgical consult in july but do not plan on surgery.. The Physiatrist said a consult would be useful even if surgery was not being done.. I had some mild hyperintensity seen in my spinal cord on the MRi but the neurologist and physiatrist didnt think that was tied to my symptoms.. I will ask a nueroradioligst friend to take a look at the mri for me..

My second opinion Md said I have early onset bulbar ALS with UMN predominance. I have mild dysarthria..When I ask about my pain in my legs they shrug.. Both neurologist are ALS specialist.The second opinion links the lack of coordination to my slowness.. it is mild.. I still have good manual dexterity just nothing is done fast.. I am on Radicava and riluzole.. It is a hard diagnosis, just happy it appears to be slow at the moment.. I think we all hope for an error in our diagnosis.. Seems to be such a heterogeneous disease/ syndrome..

I forgot to mention, I do get mild fasciculations, the frequency seems directly tied to my psyche.. If I have something stressful or bothersome they increase and are widespread.. right now they are almost nonexistent.. I have some insurance billing stuff to deal with and I’m sure as soon as I start in on that I will have lots more fasciculations until it is settled. The fasciculations have no relation to weakness for me right now. I hope this helps a little..

 

[Praying]

Has anyone here been definitively diagnosed with Cervical Mylopathy 36 hrs prior to a probable ALS diagnosis?

Definitive cervical mylopathy on an MRI and surgically proven as strength regained from say a 2.5 to 5/5.

Clean EMG

 

[lgelb]

As noted above, the two are not incompatible. Did you get the second opinion we talked about?

 

[Nikki J]

Yes a second opinion is vital but rereading your initial post it doesn’t sound like it was an absolute diagnosis ? Pretty certain is not the same as this is. I still think a repeat nfl might be helpful as it sounds like that was a part of what factored into the statement. I really don’t know if the surgery could have affected it so much but nfl in the clinical setting is still pretty new.

 

[Praying]

In process of getting referral for second opinion...minor technicality, but I think receptionist fixed today. The NFL number would have been elevated due to the spinal cord injury more than the surgery. So definitely a repeat NFL test, but the literature is not even vast for how long a nfl number remains high post a spinal cord injury. Its a great unspecific test that just needs more research.

Has anyone else been able to fully function, just slower? As walking is fine but when he tries to run he gets super nervous and his leg starts to act hitchy. But when he slows down its fine. All strength regained from the successful surgery still remains.

Wide spread fasciculations but no new weakness.

And we did have an EMG post the surgery and it was clean.

 

[rjudge]

You are very thorough, I have been diagnosed with ALS for the last 13 years and don't have any of the symptoms that your spouse does, get a second and third opinion. I had 4 emg's no Dr wants to give a diagnosis of ALS. I do have weakness in arms, legs, and hands but no pain associated with the disease. Best wishes for both of you.