Suspicious I have been misdiagnosed with ALS

[Clm]

I was diagnose 12/2023 but am suspicious I have been misdiagnosed. A number of symptoms seem inconsistent with ALS. I am working on getting into Mayo for a second opinion.

Symptoms that seem inconsistent with ALS

1). Initial symptoms were severe calf pain in both legs which started simultaneously with leg weakness and foot drop.

2). Symptoms started 2/2023 after 2 weeks camping in the jungle of Belize. Hundreds of tropical insect bites. At the end of the trip the severe calf pain and weakness came on strong. Calf pain and weakness are still present 1 1/2 years later.

3). Calf pain disappeared for a day after doing lumbar stretches. After repeating lumbar stretches my foot drop drastically improves (before stretches I cannot lift my toes, after stretches I can tap my toes freely).

4). No Babinsky sign or clonus reflex. Reflexes on feet and ankle are non responsive.

5). Extremely minimal and sporadic twitching. Only twitches noted above right knee (note my knee gave out 2 months after symptoms started. MRI showed my ACL was gone. Likely from ski knee injury 2 years earlier). Only other twitching is rare, barely noticeable twitches on right arm.

6). My ALSFRS-R score 6/2023 was 41. 8:2024 it is 39 (minimal decline in a year)

7). My right lower front leg has no ability to sense hot or cold.

8). No tongue fasciculations

Other symptoms and tests used in diagnosis

1). Weakness in both legs with more on my right

2). Weakness in right hand

3). Mild slurred speech and raspy voice

4). Positive emg in both legs and right arm

5). MRI showed some bulging disks, stenosis and facet joint arthropathy but was told there was enough room for central nerve and spine issues were ruled out (I am not completely convinced).

6). Blood work I all normal except extremely high ldl cholesterol and triglycerides, high platelets, red blood count, hemoglobin and hematocrit. High creatine kinase.

7). Had vascular ultrasound and showed sufficient blood flow (we checked for potential peripheral artery disease)

8). Muscle loss on right calf and right hand

9). Standard Lyme test negative.

 

[Nikki J]

You should absolutely get a second opinion even if the first diagnosis was by an ALS specialist. Was it? Everyone should have a second opinion no matter how firm the diagnosis

If you care to share the emg ( deidentified) that might help responses

Slow progression absolutely happens so the minimal change in frs isn’t really an argument against als.

Did you have an infectious disease consult? I am guessing the diseases you could have contracted in Belize are numerous. I would want someone who has specialized knowledge or at least the ability and willingness to consult with another doctor who does

 

[Clm]

Thank you for your input.

I was diagnosed from an ALS Dr. I was diagnosed on the first visit (previous drs had done emg, bloodwork and mri).

My biggest issues are that severe calf pain as the first and primary symptom is not consistent with ALS. The neurologist admits that. Pain can occur later but ALS states no rain, particularly early in the disease is counter to ALS. Some neurologists have written that if patients present with pain and weakness then they exclude ALS. There are other neurological diseases that do list pain Including calf pain, as symptoms (eg CIDP, Lyme, peripheral neuropathy, neuropathic vasculitis, PAD, spine issues. Etc). A differentiator for ALS is no initial pain. I am certain my pain and weakness started simultaneously and seem related. It seems we are missing the right diagnosis to account for both.

The other issue is the timing with the jungle trip. For most of the trip I was completely healthy. I was able to hike, climb, do construction etc. It was a drastic change from one day healthy and the next day in severe pain (9 out of 10 pain) and having difficulties walking and unable to rise up on my toes. I have not found any ALS cases presenting like that. Guillain Bare can present like that. I am suspicious of CIDP because it is the chronic form of Guillain Bare. It can also be triggered by the Zika virus which is prevalent in this region. The region also has warnings for Dengue Fever, yellow spotted tick fever, rickets, etc which all appear that they can cause neurological issues.

My third issue is the question of why the lumbar stretches affect both the calf pain and foot drop.

I am frustrated with my neurologist as she refuses to follow up on or address these issues even though they are inconsistent with “normal” ALS symptoms. It seems she made her diagnosis and is not interested in looking at anything else.

 

[lgelb]

I agree with Nikki on all points. An ID consult could do no harm and you don't need the neuro's blessing to do that.

Besides the risk of disease-carrying insects, you could have had infected bites or embedded parasites or all three at play. But with "hundreds of bites," that could still be distinct from an ALS dx.

So that's why I would see a tropical ID specialist.

You are never going to be able to time everything precisely enough to rule out ALS just because you had pain at the same time. But it is well worth ruling out the possibility that you still have something more treatable than ALS.

 

[Clm]

Thank you for the feedback. I will research trying to find a good tropical ID specialist. I also had an imbedded parasite in the back of neck from a previous trip to the Belize jungle. We never got it out (it was just crawling around for months until it stopped moving). I am suspicious of that as well but the timing is not as direct as the other bites. I have done a little research trying to find a tropical disease expert (I am in Colorado which isn’t exactly a tropical disease area.). I might have to go to a southern state (Texas or Florida or??).

 

[lgelb]

Andrés Henao-Martínez, MD
UCHealth Infectious Disease/Travel (TEAM) Clinic - Anschutz Medical Campus (Primary)
720.848.0191

Andres Henao Martinez | Colorado PROFILES

Colorado State has some expertise also -- UC can probably refer you if CO State is closer.

 

[KimT]

If you decide to go to Mayo, you will have a team evaluate you. I'm sure it will include a neuromuscular specialist and an infectious disease specialist. If you have difficulty speaking, you will most likely get evaluated by both an ENT and SP.

If you decide to go to Mayo, write up your history. It might get you seen earlier.

I have a friend who was dx with ALS in 2019 by a neuromuscular specialist. He died of vasculitis this year. He never progressed past one arm weakness and even the diagnosing doctor now believes he never had ALS.

So, yes, it happens. I had four opinions. The third and fourth were over a year after my initial diagnosis because I was progressing so slowly. I went more than a year without noticing any progression.