ALS? Husband’s symptoms: being evaluated next week by neuro muscular specialist

[WAdams]

This is very long and detailed. It’s regarding my husband who is being sent to a neuro muscular specialist next week for evaluation. Obviously we are most concerned with ALS.

March 2022

The first major symptom was a “shortness of breath”. After visits to cardiology and pulmonologists, two things were determined. First, a heart medication (Amiodarone) he had been on for several years needed to be stopped. It was the doctor’s opinion that the medication was causing toxic side effects such as shortness of breath. The pulmonologist did not show any actual shortness of breath on tests or physical reason for the feeling of shortness of breath, as his lungs were healthy and functional. However, the feeling of shortness of breath continued. Via one additional test there was a conclusion of a partial paralysis of the diaphragm and it was said this could be the reason for the sensation of the shortness of breath. However, they advised it was not life threatening or anything to cause concern. He immediately stopped the Amiodarone and his overall symptoms seemed to improve (fatigue, weakness), however the shortness of breath sensation continued.

In the later part of 2022, we began noticing swallowing difficulties and often he would choke on food. We assumed it could be related to his previous strokes or as a result of improper chewing.
Around Feb 2023, the muscle weakness and muscle cramps began more prominently. The weakness started in the legs and it became more difficult for him on many days to walk without extreme fatigue. Cramping in the hands began (right side) and we assumed it was overuse/muscular issues from aging and years of working in a factory. He’d already had hand surgeries and it seemed logical to us that his body may just be tired from the abuse of work over the years.
In November 2023, the cramping began to progress rapidly. Both hands would cramp and lock up, unable to be pried open or shut depending on the position of the cramping. In addition, cramping in the legs began. Within a few months, cramping of the entire body, including the torso area began. It was extreme and would last non-stop for up to 12 hours. The pain was so intense, he would scream in pain. Fatigue and weakness of all limbs progressed. This was a big enough interference in daily life that he once again went to his doctor to be evaluated. All basic blood work came back, normal, including electrolytes and vitamin levels.

January 2024
his primary doctor referred him to a hand specialist who felt he had locked joints and they suggested steroid shots in the hands, which seemed to help with a few finger locking issues, but not with the cramping overall.
February 2024

After three days of 6-12 hour full body cramping episodes he went back to his doctor who prescribed baclofen for cramps and referred him to a neuro muscular doctor, with the doctor’s goal of having him evaluated for Parkinson’s, MS, ALS and other neuro muscular disorders. The upcoming appt is Feb 21, 2024 for the consult.
He says it feels as if he needs to push hard to do basic things like speak, get dressed, or shower.

He still gasps for air throughout the day. Typically around 5pm the muscle cramping will begin. The baclofen sometimes eases that but not fully and often not at all.

Any insight would be appreciated.

 

[Nikki J]

The neuromuscular doctor should be able to give you a much more defined differential as the listed dxes even without the other thrown in are very different. He needs tests as well which will depend on the results of a focused history and exam. Please read the sticky post near the top getting a diagnosis for tips on preparing for your appointment. It will be very helpful for you to develop a concise timeline and specific examples of what if anything he can not do.

 

[WAdams]

Thank you so much for your reply. I will definitely look at the appointment preparation tips. You guys are angels for answering these posts!

 

[lgelb]

In addition to the advice in the sticky, I would write up a little summary of what a typical day looks like in terms of his condition when he wakes up, what exercise like walking he can do when and for how long, times of food intake and type of diet he follows, when he takes what meds, when the cramps start, etc.

Amiodarone toxicity can be long-term even after dc'd. Also, did the PCP run a thyroid panel?

 

[WAdams]

Thank you for the tips. I really appreciate it. Yes, the thyroid panel was normal as well as all autoimmune blood work they’ve done. He also had a PET scan in 2022 that was clear and had a CT scan of the brain in 2023 that only showed previous stroke activity from 2015.

I’m hoping this doctor will do the EMG. Is it ok to ask for one to be done or should we refrain from advocating in that way for tests? I don’t want to come across as rude to the doctor, but I also want to be sure a full eval is done.

 

[Nikki J]

You should tell the symptoms as we said. You can say also what the pcp said with the wide differential. Let them do their history and exam and tell you the plan. It may be that they will order an emg. They may say specifically that they think it is x ( not als) and order different tests. If they don’t address it it is reasonable at that point to ask if an emg is needed. That isn’t rude. Demanding one would be different. They might say not needed because y or perhaps I want to be the other tests first. Most often an emg would not be done on the day of the appointment. Very often there is an emg department if it is a big center but even when it is the doctor who does them it would be separate. A comprehensive emg is not quick like an ekg. I know Mass General where I go schedules them for 45 minutes Sometimes they are faster sometimes longer

 

[lgelb]

100% what Nikki said.

Did he have an EKG, a stress test, or any other cardiovascular testing before or after he went off amiodarone? Are you monitoring his BP/pulse when he gasps for breath and comparing those with typical values? If there are differences beyond what you would expect from the stress, I would make sure the cardiologist is aware.

That the PFTs were normal is reassuring as to ALS playing a role in breathing problems, but I would expect him to have been worked up for possible peripheral clots and bleeds, given AF or whatever arrhythmia he was taking the amiodarone for, coupled with a history of stroke.

Is he on an anticoag or antiplatelet agent?

 

[WAdams]

Just an update. We saw the neuromuscular specialist yesterday. He and his team were amazing and extremely thorough. They spent two hours with us, asking questions and doing physical exams and evaluations in the room. At the end of the two hours, the doctor said he does indeed suspect ALS. However, he felt my husband was stronger muscularly than expected. My husband feels weak and his muscles give out on him when walking and such. That was all seen by the doc when he watched him walk. But, when it came down to the whole “don’t let me push your forearm back” type of testing, my husband was very strong. What could that mean?

In any case, he ordered an EMG of course. However, the next available time for that in our city is July. I’m working on getting him on a cancellation list for it. Fingers crossed.

 

[Nikki J]

Were his legs strong on exam too? If his legs are giving out they shouldn’t examine normally. How was the rest of the exam did he have abnormal reflexes, muscle tone, atrophy? Did he say suspect als before exam from history or after?

Re emg does the doctor know how long the wait is? Or was it scheduled after you left him? If he doesn’t know it might be worth a message saying the emg is x date is this ok? And getting on a wait list is a great idea too

 

[WAdams]

The doctor said his legs were stronger than he suspected they would be. Considering when he walks they give out, I think the doctor felt the exam would be worst. He said suspected ALS at the very end of the appointment, after the discussion, history, intake, and exam. He was also able to visually see fasciculations in multiple parts of the body. His reflexes in his legs were diminished. He had absent reflexes and at the lower part of the legs and in the ankles. The doctor said he did visually see atrophy and muscle loss, most specifically in the left calf, and in the arms.

The doctor warned us. It could be two months to wait for the EMG, however, they scheduled the test after we left via another department and it turns out the wait is much longer. The doctor initially said he wanted the EMG done as soon as possible and he would be trying to reduce the two month wait, so it was a bit disappointing. Thank you for the suggestion on messaging the doctor about the test date. We did that just now and are waiting to hear back. We also called the scheduling department and got on a waitlist. They offered us a chance to call daily for cancellations, as well. It is a large university medical program, so I know many people travel here from many hours away. I’m assuming that is why the way is so long.

After the exam yesterday, my husband’s symptoms were a lot more severe. Specifically muscle cramps and fasciculations. Is that common? They did make him get into some strange positions and obviously we’re testing his muscles in various ways. It took about 30 minutes for the physical exam. It did look taxing on him physically.

 

[lgelb]

I would classify "a lot more severe" symptoms post-exam as unusual in ALS, so that, along with normal PFTs, would give me hope for something other than a motor neuron disease, such as a periodic paralysis since the cardiovascular angle evidently doesn't apply. And I would mention the exacerbation to the doc via portal if you did not. You did share the part about 5 pm onset, I presume.

 

[WAdams]

Just an update…any input welcomed and appreciated.

The notes from the neuromuscular specialist showed up in the online chart. Here is the synopsis of the clinical exam. They’ve also moved my husband’s EMG from originally scheduled in July to next week, which is stress relieving. All of this is quite confusing for me.

NOTES:

Reduced EDB muscle bulk bilaterally. Mildly reduced calf muscle bulk.
Fasciculations visible at bilateral upper extremities, some at the calves.

Impression:

• Cramps, fasciculations and progressive muscle weakness.
• Recent onset swallowing and speech difficulties
• Left hemidiaphragm weakness or partial paralysis as documented by SNIFF test.
• Large fiber neuropathy, secondary to diabetes mellitus

Stretch Reflexes:

Right

Biceps
2+
Brachioradialis
2+
Triceps
2+
Patellar
3
Achilles
0

Left

2+
2+
2+
3
0

Examination shows mild R triceps weakness. He was noted to have fasciculations at bilateral UE and some in bilateral calves. He has brisk reflexes at bilateral patella but otherwise no other UMN signs on exam.

He has length dependant reduction in vibration and pinprick sensation in BLE with absent ankle reflexes suggestive of large fiber neuropathy, likely secondary to diabetes.

Though his clinical history of progressive weakness, muscle bulk loss, bulbar weakness and fasciculations raise concern for MND, he however doesn't have any significant muscle weakness on my exam (except mild right triceps weakness).

Only UMN sign was brisk patellar reflexes. I will plan to obtain EMG study to evaluate for lower motor neuronopathy.

Peripheral nerve hyperexcitability syndrome also remains on list of differential.

 

[Nikki J]

It sounds like there is reason to hope for a different diagnosis but the emg will really give you an answer yes or no. He has no real upper motor neuron signs which are really part of ALS but some people start with lower motor neuron disease. That is manifested by atrophy, clinical weakness and would be seen on emg. He doesn’t have much weakness on exam. He also apparently has diabetic neuropathy.
Perhaps he has that and some combination of other things playing into his symptoms. Please let us know what the emg shows

 

[WAdams]

Thank you for responding. We are holding onto hope, for sure. I appreciate this group. It’s comforting to get feedback from knowledgeable people willing to support.

 

[WAdams]

My husband had his EMG this morning. They did the legs and back. The neurologist who did it only reported Moderate neuropathic recruitment in a few areas. He seemed certain no signs of ALS showed on the test, which obviously was great news to hear. He said he would let the neuromuscular specialist make the final call, however. Am I correct to think Moderate neuropathic recruitment is not a sign of LMN?

Thank you for the support and answering of questions during this time for us. It’s been a true God-send.