Home from hospital - still no diagnosis

[Drewsmom]

I took my husband to the ER on Sunday. He continues to get weaker and is having difficulty walking. Our appointment with the neuromuscular neurologist is not until June and so we were desperate. The ER doctors were great and got him admitted promptly. For the first time we heard those three letters. He ended up with a team of 5 resident doctors and one supervising MD. He had his own "House" team! They also basically felt that he was a clear cut case of ALS. However the EMG did not give them the evidence they need. It was not normal but it also wasn't convincing enough. Yet it ruled out all neuropathies and also did not indicate a myopathy. They did many tests and repeated many that he has already had. His CK level is not elevated nor are other inflammatory markers.
We are still awaiting the results of the muscle biopsy. And he was discharged home with a rolling walker. He also has a lot of "burning" pain in the back of his legs.
Just wondering if our story sounds familiar at all to anyone here and if you have any thoughts.

Thank you

 

[Dusty7]

Several thoughts--
1. EMG does not show UMN signs, so if he wasn't showing UMN on clinical exam, it would fit their statement that the EMG "wasn't convincing enough."
2. If they only found LMN signs in the regions you mentioned, legs and arms (thoracic and lumbosacral) and not in bulbar and cervical regions, then once again "it wasn't convincing enough" and they probably aren't ready to diagnose yet. (They need 3 regions.)
3. ALS requires progression. As it sounds like this was the first time they saw your husband, they can't say for sure that there is progression.
4. ALS requires the elimination of all other possible diseases. The muscle biopsy shows they still believe some other disease (like inclusion body myositis) is a possibility.

Also, you don't say that any of the doctors were neuros and we have talked on this site about how hesitant many neuros are to mention ALS. It seems most non-neuros really don't like to say those letters at all.

Hopefully you got another referral from the ER physician and he can help get your husband seen by a neuromuscular neuro faster.
Though, if they announce it's ALS, it changes nothing medically. Psychologically, yes, it's nice to have an answer, but medically nothing will change. So, live for today. Seems hard when he's going downhill, but if it's ALS he will only get weaker and capable of doing fewer things. So live for today. Enjoy it today.
Good luck!

 

[Drewsmom]

Thank you Dusty. Your post was very informative and does make a lot of sense. He was on the neurology floor of our university teaching hospital so his team was solely comprised of neuros. The ER docs are the ones who said ALS. The neuros would only say Motor Neuron Disease.
We still haven't heard anything from the muscle biopsy. As far as the diagnosis- I guess I think it would help two things:
1. Pain control. He is having a lot of burning pain in his legs and his calves will spontaneously cramp up. I guess I think if they knew exactly what was wrong they would prescribe better meds. He currently is taking Mobic 15 mg and Neurontin 300 mg 3/ day. They also gave him some Lortab for a few days to treat the pain from the muscle biopsy.

2. SSDI - we have 3 boys at home. One is in college. So naturally I have $$ concerns in addition to all the worries about his health.

Also I am a planner by nature. Having our lives up in the air is so doffocult!

 

[MaxEidswick]

>Though, if they announce it's ALS, it changes nothing medically. Psychologically, yes, it's nice to have an answer, but medically nothing will change. So, live for today. Seems hard when he's going downhill, but if it's ALS he will only get weaker and capable of doing fewer things. So live for today. Enjoy it today.

ditto that!

Get to an ALS clinic if possible.

Max

 

[Dusty7]

SSDI is a big issue and a reason to keep pushing on the neuromuscular guy to move your appointment up. (Big issue for you, not for him.) Is it worth the drive to Atlanta if you can get in quicker?

Then again, why are they saying MND and not ALS. If he's only showing LMN signs, the neuromuscular guy will probably also not say ALS yet. Or if they're not saying ALS because they're not seeing progression to the other body regions, then again, any neuro may stop at MND and not go to ALS... which leaves you a step short as far as SSDI goes. I guess I would ask the neuro guy you saw at the hospital, why MND and not ALS? Good luck and keep pushing.

 

[MaxEidswick]

>Then again, why are they saying MND and not ALS

I thought MND was European for ALS ... what is the difference?

 

[bluedog]

I would get a copy of the EMG report to see what the abnormalities are.

For ALS, the EMG is basically looking for the following main things:

•The size of the motor unit potentials (MUPs) when the muscle is activated. Large MUPs indicate nerve damage (denervation followed by reinervation), and small MUPs indicate muscle disease, which was ruled out in your husband’s EMG.

•Polyphasic MUPs when the muscle is activated, indicating the nerve axons have reorganized.

•Spontaneous activity (fibrillations, sharp waves, and fasiculations) when the muscle is at rest.

This is just speculation without the report, but since the neuros are still saying ALS after the EMG, my guess is that the EMG showed large MUPs or polyphasic MUPs, which would be stated in the EMG Summary as chronic neurogenic changes. I would further guess that they think the EMG isn’t convincing enough because there was no or not enough spontaneous activity in the muscles that had neurogenic changes to indicate both chronic and active denervation, which is required to determine ALS.

I hope the fact that the EMG is inconclusive, given the fact that your husband has had such acute symptoms for so many months, leaves the door open that this could be something other than ALS.

 

[Dusty7]

From Wikipedia--
"In the most common classification, the term "motor neuron disease" applies to the following five disorders which affect either upper motor neurons (UMN) or lower motor neurons (LMN), or both:

Amyotrophic lateral sclerosis (ALS) UMN LMN
Primary lateral sclerosis (PLS) UMN No LMN
Progressive muscular atrophy (PMA) No UMN LMN
Progressive bulbar palsy (PBP) No UMN LMN – bulbar region
Pseudobulbar palsy UMN - bulbar region
No LMN


So the doctors are telling Drewsmom it's one of the above 5 diseases, but not necessarily ALS.

And yes, the terminology between the US and the UK is different. Per Wikipedia again, "In the United Kingdom, motor neurone disease (sometimes spelt as motor neuron disease) refers both to amyotrophic lateral sclerosis and to the broader spectrum of related motor neuron disorders that includes progressive muscular atrophy, primary lateral sclerosis, and progressive bulbar palsy."

And, of courser, in the US a lot of lay people only recognize the disease if you call it Lou Gehrig's. And there are other diseases that affect the motor neurons that are not included in the above spectrum.

 

[alsornot]

your husbands story sounds exactly like mine...i have gone to the er 3 times and sent home...with 'maybe a virus' well now after two years i am walking with a walker all the time and a wheel chair when on long outings with family. my breathing is getting worse on any activity i am breathless and dragging my right leg around take alot of energy out of me..i only have one dr. who truly supports me but he is not my neurologist...i have rejected all the meds, gabapentin amatrypaline cymbalta as i don't like the side effects so my neurologist says i am not coperatiing but i would prefer to rest as my medicine. my 3 month check up is in april...so have to play the waiting game until then ...and it just goes on and on and on like this! much lv to your husband and i hope he gets peace of mind.

 

[Drewsmom]

I finally heard back from the hospital/clinic today after several messages. They did tell me that all of the lab work that was sent to Mayo came back normal. They said the muscle biopsy would be another week. While we were in the hospital we were told we could get a preliminary report after a few days since it is all being done there. Now it's a different story. Wow the waiting is rough!

 

[Dusty7]

Don't know what came back from Mayo as "normal". If it was just blood work, "normal" can mean ALS is still on the table. Sorry... Most ALS bloodwork in my experience is trying to find something else that comes back "positive"--Lyme disease, cancer, vitamin deficiency, etc.

Have you gotten a copy of the EMG? Does it show acute (current) denervation? Does it show chronic (ongoing) denervation? Aberrations in MUPs? Whoever did the EMG should have written a summary saying this was a "complex", "complex and abnormal", or a "clean" EMG or some words to that effect. They know whether they were looking at denervation, reenervation or whatever. I would ask my neuro for a copy of the report.

 

[Barbie]

could you get an apt with any of the doctors that reviewed the case in the hospital? I am sorry you are having such a tough time.

 

[Drewsmom]

We do have an appointment next week with a neurologist at that clinic until we can be seen by the neuromuscular neurologist. Surely the biopsy will be back by then. I really feel like they probably already have it but don't want to discuss the results over the phone.

When he was discharged from the hospital we completed all the paperwork requesting everything - including the EMG report, but we have not received it yet. I am sure it isn't "clean" because they (doctors on the neurology floor) didn't talk about motor neuron disease until after the emg, although the ER docs did mention it. Basically the 5 resident doctors felt like it was ALS/MND - while the supervising physician thinks it is a myopathy. But as far as exactly what they saw in the EMG - I don't know that yet.

I really appreciate all of the insight here.

 

[Drewsmom]

We got the medical records today. No EMG report included. . The inky thing I learned was that his lower reflexes are 4+. Are there muscle diseases that also cause hyperreflexia? Or does this mean greater chance of ALS diagnosis?

 

[Dusty7]

Is it possible the supervising physican said "myelopathy", not "myopathy.

From Cervical Spondylotic Myelopathy: A Common Cause of Spinal Cord Dysfunction in Older Persons - American Family Physician
"Cervical spondylotic myelopathy is the most common cause of spinal cord dysfunction in older persons. The aging process results in degenerative changes in the cervical spine that, in advanced stages, can cause compression of the spinal cord. Symptoms often develop insidiously and are characterized by neck stiffness, arm pain, numbness in the hands, and weakness of the hands and legs. The differential diagnosis includes any condition that can result in myelopathy, such as multiple sclerosis, amyotrophic lateral sclerosis and masses (such as metastatic tumors) that press on the spinal cord. The diagnosis is confirmed by magnetic resonance imaging that shows narrowing of the spinal canal caused by osteophytes, herniated discs and ligamentum flavum hypertrophy. Choice of treatment remains controversial, surgical procedures designed to decompress the spinal cord and, in some cases, stabilize the spine are successful in many patients....
A characteristic physical finding of CSM is hyperreflexia."