Why do so many doctors seem unaware of connection between foot drop. and ALS?

[KarenNWendyn]

This is a question recently posed by another member in another thread. I thought it would be an excellent question for discussion, so I decided to open a new thread so we could get different perspectives.

I am coming at this both as a PALS who presented with foot drop and also as a physician (board certified in both rheumatology and internal medicine) practicing rheumatolgy for 25 years (now retired ).

ALS is a rare disorder. In my years of medical practice, I saw one patient with a motor neuron disorder and whisked him off to a neurologist. Most physicians who are not neurologists either never see a case of ALS or maybe see 2-3 in their career. As we know, ALS varies so much from person to person that seeing a few cases hardly makes a doctor an expert. So it’s not high on our radar.

In my practice, most cases of foot drop seemed to come from nerve root compression in the spine, vasculitis (inflammation of blood vessels which may affect nerves), or some other injury to the peripheral nerves. It’s natural for doctors to look for the most common causes first and to see it from the perspective of their own specialty.

My own ALS presentation was weird, but I guess not that atypical from others on the forum. I kept twisting my left ankle, so I thought I had an injury that wasn’t healing properly. Then I started having muscle cramps. I rationalized I was getting older and some how compensating for the ankle injuty. First I saw a podiatrist. Later I saw an orthopedist. Then after noticing my gait was “funny” and discovering I couldn’t rise up on my toes or heels of either foot did it even occur to me that there might be an underlying neurological problem. When I became aware of fasciculations a month later, then I began to think ALS and pursued the appropriate workup, eventually arriving at the diagnosis.

If others want to share their perspectives on why it takes so long to get diagnosed, including all the bum steers and dead ends they got from various doctors along the way, here’s an opportunity.....

 

[Narrowminded]

Karen,

My husband, Brian, also presented with foot drop. Although not exactly recognized as that at first. He was limping. He had no pain and as a work-a-holic definitely didn’t want to take time out to see a physician. I would learn later that he had been having lots of Charlie horses after getting off the ice coaching our sons ice hockey team. However, all through his life he would get Charlie horses here and there and I’m sure not something he ever really thought that unusual, at least not enough to tell me.

The following summer from starting to limp, we took our son up to college to schedule his first semester of courses. We both noticed that the limping leg was swollen from the knee down. My first thought was a blood clot, but also thought maybe he had something out of alignment. He went to visit our neighbor, who was a fantastic Chiropractor. He would thoroughly assess and only treat if he felt he could, other wise he sent you to your PCP. Which in Brian’s case he did.

The PCP ordered a Doppler and an x-ray. Both negative and send him to an Orthopod. The Ortho re-read the x-rays, agreed negative and ordered his first EMG/NCV. The tech that performed it kept asking about his back. There was no pain. The tech thought it presented as a slipped disk. Sent him back to the PCP who then sent him to his first Neuro.

1st neuro did a few MRI’s, said I don’t know call us back in 3 months if you are still having issues. At this point we are a year out from the original leg cramps. After that Brian refused to go see anyone else, “he didn’t have time for that”.

Meanwhile our neighbor and friend who was an ER physician kept asking and I kept telling him that Brian won’t listen to me because I don’t have a DR in front of my name. In the middle of that, my brother who sells and help set up MRI machines (trained as an x-ray tech), asked Brian to come to a set up and he would MRI his brain and leg as a demo. Brain was completely normal, leg was too swollen to read.

Neighbor finally got Brian to agree to give him all his films and he’d ask a neuro at the hospital where he worked. Off to neuro #2. He did a ton of blood work, a myelogram and his second EMG/NCV. He also sent him for some light PT. Through all of this, his symptoms had not progressed much but he did begin with fasciculations. After 6mo with this neuro, he referred us to our current and DXing Neuro.

When the 3rd final and current nuero read his chart he immediately said NMD/ALS. Brian was not pleased and did not want to believe it. So this nuero ran his 3rd and final EMG/NCV

Hugs,

Sue

 

[Clearwater AL]

Karen, as you know there are several causes of foot drop besides ALS. So often the peroneal nerve is pinched causing the inability to lift the front of the foot from resting flat on the floor.

Foot drop from ALS would readily present itself in an EMG.

This (yours) challenges the weakness first versus failure discussion that has been nearly endless here on the Forum. The test of standing on the balls of your feet (without feeding another sub-Forum) is possible with foot drop in some situations.

Anywhooo... others will chime in on this.

 

[sassy]

My husband saw three neurologists. The first dr. was a local neurologist that I wanted him to cancel since he wasn't a neuromuscular specialist but my husband(nicest guy) wanted to follow his pcp's referral. Well-he ordered the appropriate labs and scans and completed an emg and told us he ruled out als and ms and suggested we get a second opinion. We had already booked it.

My gut told me the second dr. thought he had als after he examined my husband't foot since he had already reviewed the labs and scans we brought with us. He looked right at me and asked what I was worried about. Obviously, I said als and he said we need to keep that on the table. A month later following the emg-he confirmed the dx.

Third appointment was at an als center where they agreed with the dx and said another emg was unnecessary.

With limited medical knowledge- I would guess if the labs and scans rule out every other dx. and drop foot remains - sadly, als is very likely on the table.
Sassy

 

[sassy]

Interestingly enough----- for years my husband would wake up during his sleep with Charlie horses ...

 

[Chincoteaguer]

My wife had two falls long before being diagnosed with ALS.

One while carrying boxes from the garage to the house and another while bringing in clothes from the clothes line.

On the second fall she broke her pelvis. The rehab facility released her after 3 weeks and scheduled therapy for her weak right leg. After several sessions the therapist said the therapy was not working. This was in march of 2017.

Her orthopedic surgeon diagnosed foot drop and prescribed a brace.

She was also slurring her words during this time. Speech therapist, ENT specialist, pulminary specialist, and others had no answer for the slurred speech.

Finally in December of 2017 she got her ALS diagnosis.

 

[ShiftKicker]

Other side here- just to add further confusion.

I was first told I had "foot drop" by my gp (who attributed it to "post flu effects"). The term was also used by a neuro- ophthalmologist who specialized in MS and by a general neurologist when I was first being put through my diagnostic paces.

My "foot drop" was later clarified by both a physio and the neuromuscular specialist who finally diagnosed me- and was changed to "spastic gait with slap foot". So, there is some confusion about what foot drop even is. I did not have drop foot- I had a leg that dragged because of spasticity combined with slap foot.

 

[KimT]

Well, mine is an interesting case and totally atypical. Hindsight is 20/20.

In 2012 I got up from my home office chair and twisted my ankle. I had very small bones but was extremely active and athletic. Even playing basketball and numerous other sports, I had never had a sprained anything. I didn't think anything of it but it was so badly swollen, even after icing it down for days, I went to urgent care and got an x-ray. Nothing broken. I limped along for several months, then it improved. It never got 100% because I noticed on my runs and walks it would be the first limb to say "enough."

A year later I was running and fell. I fell on my face. Had multiple cuts and was eventually diagnosed with traumatic brain injury. This wasn't the first time I hit my head. Shortly after that fall I started feeling manic. I went to my local neurologist and he sent me to a neuro psychiatrist for testing. They noted mild motor skill impairment along with some cognitive changes like a drop of 45 IQ points. I blamed my mania on taking iodine supplements for my sluggish thyroid (Hashimoto's). Within a couple of months I lost 10 pounds (doesn't sound like much but I only weighed 118 to begin with.)

I started eating more and gained a few pounds back. The revved up system slowed down.

Summer, 2014, I was swimming and I had a bad cramp in my left foot. Within a couple of weeks I started getting twitches in my left foot. The cramps came and went but the twitches stayed and move into my left calf within a couple of months.

I went back to my neurologist and he asked my how my left ankle was doing. I thought that was a very strange question but he said he wanted to do an EMG on my left leg. After the EMG he told me he was sending me to Mayo Clinic because they had specialists there who were more versed on complex cases (later he told me he suspected ALS)

My first EMG was dirty and in the "possible" category for ALS only because I was so strong to begin with that the doctors didn't believe me when I told them my leg was weak. The first EMG showed chronic changes, fibs and PSWs. I also had brisk reflexes noted on the first exam.

I was diagnosed in Summer 2015. Atrophy started showing up by then, along with multiple EMGs all getting worse.

Now comes the very weird part.

Even though it's hard for me to walk more than 100 feet without becoming unsteady, I can still stand on my toes and heels. It hurts and it's very hard but I can still do it.

I fell again in September 2016 and sprained the right ankle. They said I probably wouldn't recover so I started paperwork on my PWC and received it. In early March 2017 I started floating in the heated pool and trying to do ROM with both ankles. I did this faithfully at least 5 days a week. Since my fall I had been using a manual wheelchair to get to the pool but one day I walked down and walked back up. No matter how slow, I can still walk down and back.

It now seems like all my muscles are very, very gradually getting weak at the same time. I think this is odd. My left hand is quite atrophied but I can still type....slower and with more errors.

Because of my odd presentation, I went to four Centers of Excellence. Nobody could give me a different diagnosis.

My conclusion is that ALS can start years before we notice anything. I was so hyper aware of my body and had a neurologist who had been treating me for other issues (car accident, migraine, Meniere's) for 15 years that I think we discovered it very early.

 

[Vincent]

I also initially presented with left foot drop. My wife noticed it before I did. I wrote it off as a new pair of shoes and too much walking on hills in Quebec city. We started a diet and started walking 6 months later and still slap slap. I went to my pcp and got a referral to see a physiatrist. This just happened to be someone I had worked with on an amputee clinic for 20 years. She got the referral and phoned me immediately and said get over to her office now. I had my first EMG that day. I don't remember how many times I was asked about pain, which I did not have. Nothing she could or would say, so 3 month follow up with the assurance it usually resolves itself, probably just a virus. I got in to have mris done in a week, this is in a place where 6 months is normal. It could be a pinched nerve, ms, a stroke the list went on and on. MRIs come back clean: no MS. I now have an MRI named after me, good thing I'm not claustrophobic, no pinched nerves. It was 3 years before I was diagnosed. So there any number of things to rule out before being diagnosed, most of them way more common than ALS.
Vincent

 

[Nikki J]

The good news if it took a while to get diagnosed is a longer diagnostic delay correlates with slower progression

There is a big neurology meeting this week. This poster is being presented tomorrow
https://submissions.mirasmart.com/Verify/AAN2018/submission/temp/radC430E.pdf

 

[KarenNWendyn]

I’m thinking (hoping) more rapid diagnosis may be a future trend for ALS. After watching the NEALS webinar on Edaravone (Radicava), I was really struck that there is a window of opportunity early in the disease where neuroprotective interventions are more likely to be helpful. Once one has passed that window of opportunity (and many of us are due to delays in diagnosis, insurance hassles, etc.), then treatments are less likely to help.

 

[Nikki J]

That is surely true. It is like not being diagnosed with cancer until it has metastasized.

The gene blocking treatment for SMA really only helped when given before symptoms or at the very beginning in the infantile form.

One of the goals of the preFALS studies is to find either presymptomatic or very early biomarkers

 

[KW1234]

My presentation was muscle weakening. I had been going to physical therapy for two years and my muscles started getting weaker. My therapist measured strength monthlyy. I was also seeing a ffunctional medicine doctor who did extensive blood tests. My CK levels jumped from around 50 to 275.
In the meantime, I fell while getting off my bike and broke a rib. My PCP sent me to the neurro, told him I thought it might by ALS, after several MRIs and emg, he agreed and sent me off to the ALS specialist. I first saw my pcp in early sept, final diagnosis Oct 13. I think because it is rare the process of elimination takes time

 

[Vincent]

Masitinib seems to be the next big thing. I'll be talking to the principal Investigator in Canada on the weekend. There is a big trial starting in Canada soon. I am a slow progressor, thanks be to God. A Ck level below 300 is considered normal. When it gets to 6000, been there done that, it's time to start worrying.
Vincent

 

[mpnatx]

Didn't present with foot drop.
I went to my primary physician for a pinched nerve in my shoulder. While he was doing the exam, he says "wow, you have brisk reflexes!".
Then does the Hoffmann's reflex and says "you have a positive Hoffmann's reflex".
Then, he refers me to an orthopedic surgeon. He wanted to do surgery immediately.

I had a urologist appointment later that week and told him what was going on. He said "you don't need that kind of Dr. I'm going to refer you to a Neurologist ".
The shoulder healed, but got the ALS diagnosis right after the EMG. Not expecting that!
I knew about ALS, ( ice bucket challenge was going on) but wasn't aware of the symptoms at that first visit. I had been dealing with leg fasciculations and cramps. Thought it was restless leg syndrome and thought the cramps were from cholesterol meds. (Known Cramping side effects from statins ).

Looking back, I didn't expect the primary Dr to know much about ALS. But, would have thought some red flags were raised.