What are ALS variants?

[Forester]

I am trying to gain information regarding my situation.

December 2010 a cold, followed by a persistent cough lasting into 2012.

[In the fall of 2010 I went on a scuba diving trip in the Caribbean and did just fine. Great breathing, great strength and coordination.]

December 2011 through January 2012 I got a cold, then bronchitis, and finally pneumonia. In my life I rarely get colds, previously had bronchitis once at the age of five, and never had pneumonia.

Early 2012 I notice I can't open screw-on pop bottle caps very good. I notice my right thumb is weak. My doc sends me to the hand guy who determines it is an arthritic joint in my hand at the base of my thumb.

In about April I get my doctor to send me to a pulmonologist. I am treated for pneumonia and the cough. I don't feel like I can fully inhale and have trouble breathing while lying on my back. At the time I got sent to the pulmonologist, I mention to my family doc that there is an issue with my right foot. It's like I am headed toward drop foot. It tends to slap down when walking fast. He sends me to get a nerve test on my leg.

The nerve test doc [at the hospital] reacts with transparent excitement at finding something. I am failing his test and he says with what appears a bit of glee that I may have the beginning of motor neuron disease. He says to me, good luck.

I go to a neurologist for a full workup. There is atrophy in my right hand/thumb. So, that was not a joint. He does various blood tests, a cranial CT scan, a spinal CT scan, and a lumbar puncture.

None of these tests show any abnormality. The only test showing abnormality is the EMG. The person administering the first one said I had noisy muscles.

I have lost about 27 pounds since early May. I started at 226. My doctor wanted me to lose 20-25 anyway, but this was essentially not a planned loss. I have had a problem with fatigue since January 2011. I was unemployed for the entire year of 2010, with lots of stress from that.

I am, in general, a lot weaker than normal. Everywhere. I no longer walk with a fluid ease. It is clunky. I have back pain, as well as foot pain.

The neurologist I have seen has no patient relations skills. He answers no questions, even those repeatedly asked. All I have been able to dig out of him so far is that he says I don't have ALS. He says this is because I have no spasticity and no rigidity. He says he won't rule out that I could have a variant of ALS.

As you might guess, I have done considerable web searching on ALS variants, but have not come up with very definitive ideas on what that means.

I feel that somehow all the respiratory ailment and cough stuff is somehow connected to this. I saw an infectious disease specialist who said there are infections that can cause every neurological symptom I have. He then tests and does not find infection, but does find elevated liver enzymes. He further indicates it is possible to have an autoimmune liver disorder that can cause all this, and that it can be treated with prednisone, and may go into remission.

I also wonder about Lyme disease. There is considerable controversy regarding whether there are viable tests to diagnose it. From what I read, Lyme disease could be responsible for all my symptoms.

In summary, a main question I have is this: What are variants of ALS? Are these things that have actual names and descriptions?

Also, does any of this provoke any particular comment or thought?

Thank you for your consideration.

 

[Tokahfang]

There are different onsets of ALS, but I don't think that's what your doc meant. There is a spectrum of pure MNDs, of which ALS is the most popularly known, maybe that is what he meant? Some damage the upper motor neurons only, some lower, some both.

Primary Lateral Sclerosis and Pseudobulbar Palsy - UMN only
ALS and Progressive Bulbar Palsy (I think?) - UMN and LMN
Progressive Muscular Atrophy and Spinal Muscular Atrophy - LMN only

That said, some people simply get diagnosed with "other MND"... not all of them fit in these neat lines.

The big thing to remember is that it is only MND if it is nothing else, and you still have options on your plate. Not all things that damage the motor neurons are a incurable progressive disease, after all.

I would caution you against trying to fit everything you experience in one bucket. Having one medical problem doesn't make you immune to another. It's neater when you can slap a big scary name on everything all at once, but don't do it. It keeps curable problems from being treated, for instance.

 

[Trollhunter]

Forester,
In answer to your questions, the National Institute of Neurological Disorders and Stroke (NINDS) has a good Motor Neuron Diseases Fact Sheet that lists all variants of ALS. It goes into more detail than anyone can list here, and you can do a search for it.

Other thoughts: Colds, coughs and pneumonia are not a precursor of ALS. Back and foot pain are not symptoms of ALS. If you are not happy with your neurologist, you should seek out another one. U of I Hospital has an ALS specialist, and Mayo Clinic is not too far from you, either.

Hang in there--it sounds like you are on the right track as far doctor visits; it can take a while to get a good diagnosis, as your doctors will want to rule out everything else before they tell you it is ALS. Best of luck in getting a good diagnosis and treatment.

 

[notme]

Please, before you do another darn thing...find a new doctor. Yes, we want competent doctors, but we also want doctors that will answer questions.

None of us can say you do or don't have ALS, but many here have LMN only Issues (the issues that show on EMG) without UMN issues. An ALS criteria officially requires UMN and LMN, but there are sticky posts with the criteria.

Please contact the ALSA for a referral.

Look at my tag line. It can only be ALS when it can't be anything else.

It would be a bit odd for ALS to hit just your thumb, then move to your legs. Normally, it'd progress throughout that hand and arm.

You can also contact the MDA or the VA if you're a veteran. If ALS in any form has vpbeen mentioned, you'd be eligible foe at least diagnostic testing through MDA if there are insurance issues that force you to remain with a neuro that won't answer questions.

The way to go with any suspected neuromuscular issues is a neuro uscular specialist, not a garden variety neuro. Good luck to you.

 

[Forester]

Please, before you do another darn thing...find a new doctor. Yes, we want competent doctors, but we also want doctors that will answer questions.

None of us can say you do or don't have ALS, but many here have LMN only Issues (the issues that show on EMG) without UMN issues. An ALS criteria officially requires UMN and LMN, but there are sticky posts with the criteria.

Please contact the ALSA for a referral.

Look at my tag line. It can only be ALS when it can't be anything else.

It would be a bit odd for ALS to hit just your thumb, then move to your legs. Normally, it'd progress throughout that hand and arm.

You can also contact the MDA or the VA if you're a veteran. If ALS in any form has vpbeen mentioned, you'd be eligible foe at least diagnostic testing through MDA if there are insurance issues that force you to remain with a neuro that won't answer questions.

The way to go with any suspected neuromuscular issues is a neuro uscular specialist, not a garden variety neuro. Good luck to you.

Thank you for your comments. I am seeing a different neurologist for another opinion. [An irony, considering I have no first opinion.] I have been sent to a neurology specialist at the University of Iowa.

I am interested in your comment about the possibility of having lower motor neuron issues only. I have no basis to understand the EMG, and certainly this first neuro told me absolutely nothing about the test or its significance. Grrrr.

 

[Luke]

Wow. Your story mirrors mine in so many ways it's uncanny. Feel free to click my name, then view my previous threads if you want to get a better feel for my experiences so far. The thread "Update - As Promised" condenses and summarizes the timeline and events best, if you want to get a good, quick snapshot. I'll be following your story with interest and keeping you in my thoughts.

There are hundreds of cases where someone was initially believed to have ALS or a similar motor neuron disease but it was later discovered to be a mimick syndrome. From my own research, some of the ones that popped up were paraneoplastic syndromes, where someone has an undetected malignancy somewhere in the body and for unknown reasons, the nervous system goes haywire. This is very rare, but sometimes once the cancer was located and treated, the motor symptoms improved. Anyway, don't go on a wild goose chase for these unusual edge cases nor bombard your doctor with printouts of rare, wacky MND mimick cases from Google, but I have found hope in these things, particularly because of my young age and atypical presentation of symptoms. Lots of muscle diseases can mimick MND too, and that's the working theory for me right now. Best of luck.

 

[Forester]

I considered starting a new thread, but there may be value in continuing this one. Perhaps a moderator will make that judgment and move what is necessary.

I did see the University of Iowa specialist. She says I do not have ALS, and only have lower motor neuron involvement. I had a constellation of factors aligned such that she suspected I had Kennedy disease, but a genetic test rules that out.

According to the diagnostic tree she drew, what you have if you have only upper, what you have if you have only lower, and the idea that you have ALS if you have both, puts me on the lower only side.

This U specialist is quite emphatic that I have only lower. I read here that upper could come along someday, but I need some optimism now, and so will hope that does not occur.

This suggests I have what is termed spinal muscular atrophy, and type 4 of that; adult onset.

The other things I have going are another U specialist dealing with liver. I have elevated liver enzymes. An infectious disease specialist I saw told me a liver disorder could cause all my neurological symptoms. He directed me to see the specialist. That presently won't be until January, due to tight bookings, but I am seeking cancellations. A lot of this is agonizingly slow.

I am getting a handicapped parking permit because it is getting pretty hard to walk any great distance. If I walk more than 200 feet or so I want to stop and rest my leg. Sometimes later in the day I have to stop more frequently than that. Walking is a lot of effort, and not just physical. It is as if you have to think about every step.

Thanks for listening.

 

[bigguy]

SMA of any type can be ruled in or out with a genetic test.

 

[Forester]

Can you please explain more about what you are meaning there?

I had the SPINOBULBAR MUSCULAR ATROPHY test, it is supposed to be the test for the Kennedy disease marker, so to speak.

 

[rose]

Forester,

I hope the wait to see the specialist zooms by, (or there is a cancellation)

Your chest infections could be coincidental. Sometimes we do have to draw a line around what problems belong grouped together. On the other hand, with the elevated liver enzymes, you definitely could have an inflammatory process. Either concurrently, or instead SMA.

Have you ever actually been put on a trial of prednisone, to see if there is any improvement in your symptoms? I would think that if no one has explored if you will improve with prednisone, that this is something that should be addressed with your doctor.

Has anyone mentioned CIDP to you?

Other differential diagnoses could include : CIDP, PMA (i.e. progressive muscular atrophy which is purely lower motor neuron affected) & inflammatory myopathy...

Did your EMGs reveal any conduction block? Were your NCV results normal?


My onset was not at all similar to yours, but, I do have (almost) purely lower motor involvement. I initially was treated for Sjogren's Syndrome with several immune modulating drugs over a period of many months, culminating with a two week trial of very high dose of prednisone, and when no improvement was gained from this, it was deemed to be not inflammatory in nature.

This "judgment call" was first made by a very well respected rheumatologist who is a guru in that field, and was upheld by the doctors at Johns Hopkins. Even though it—a (high dose trial of prednisone—may be a low tech way of determining if a cause is inflammatory (either auto immune in nature, or caused by an infection) it is considered to be reliable.

However, prednisone, (and IVIG treatments) are not without possible side effects and health risks, so its not like a doctor is going to order them without enough evidence to support its use.


I originally was diagnosed with bulbar onset of ALS, but this was eventually changed to an unspecified MND variant.

I totally understand the frustration with the terminology "variant" when its applied, but many people get stuck it it.

I hope you do have something which is treatable, do insist on finding out why you seem to have an inflammatory process at work in your body. Whether or not its the cause, you still should try to find what it is.

Good luck to you.

 

[rose]

Forester,

I hope the wait to see the specialist zooms by, (or there is a cancellation)

Your chest infections could be coincidental. Sometimes we do have to draw a line around what problems belong grouped together. On the other hand, with the elevated liver enzymes, you definitely could have an inflammatory process. Either concurrently, or instead of SMA.

Have you ever actually been put on a trial of prednisone, to see if there is any improvement in your symptoms? I would think that if no one has explored if you will improve with prednisone, that this is something that should be addressed with your doctor.

Has anyone mentioned CIDP to you?

Other differential diagnoses could include : CIDP, PMA (i.e. progressive muscular atrophy which is purely lower motor neuron affected) & inflammatory myopathy...

Did your EMGs reveal any conduction block? Were your NCV results normal?


My onset was not at all similar to yours, but, I do have (almost) purely lower motor involvement. I initially was treated for Sjogren's Syndrome with several immune modulating drugs over a period of many months, culminating with a two week trial of very high dose of prednisone, and when no improvement was gained from this, it was deemed to be not inflammatory in nature.

This "judgment call" was first made by a very well respected rheumatologist who is a guru in that field, and was upheld by the doctors at Johns Hopkins. Even though it—a high dose trial of prednisone—may be a low tech way of determining if a cause is inflammatory (either autoimmune in nature, or caused by an infection) it is considered to be reliable.

However, prednisone, (and IVIG treatments) are not without possible side effects and health risks, so its not like a doctor is going to order them without enough evidence to support its use.


I originally was diagnosed with bulbar onset of ALS, but this was eventually changed to an unspecified MND variant.

I totally understand the frustration with the terminology "variant" when its applied, but many people get stuck it it.

I hope you do have something which is treatable, do insist on finding out why you seem to have an inflammatory process at work in your body. Whether or not its the cause, you still should try to find what it is.

Good luck to you.

 

[bigguy]

Kennedy's disease and Spinal Muscular Atrophy (types 1-4) are two different diseases with different genetic causes. Kennedy's disease is also known as Spinobulbar Muscular Atrophy or SBMA. Both can be checked through genetic testing.

 

[Forester]

Have you ever actually been put on a trial of prednisone, to see if there is any improvement in your symptoms? I would think that if no one has explored if you will improve with prednisone, that this is something that should be addressed with your doctor.

I was on a course of prednisone for a time during my pneumonia treatment, but not for anything else.

Has anyone mentioned CIDP to you?

No, but I just read about it and it seems very plausible, particularly in light of my liver circumstances.

Other differential diagnoses could include : CIDP, PMA (i.e. progressive muscular atrophy which is purely lower motor neuron affected) & inflammatory myopathy...

I will read more about PMA and inflammatory myopathy.

Did your EMGs reveal any conduction block? Were your NCV results normal?

A little uncertain in this opinion, but I am thinking there was no conduction block. I do not know the meaningi of NCV. Just looked, nerve conduction velocity? I do not know as I write this what my values were there. I can explore that.

Thank you sharing these other possibilities. I appreciate it very much. I worry a bit that my presence here is not legitimate, and appreciate the tolerance of all the folks for my questions.

 

[Forester]

I just submitted another post, but had a window come up and indicate my post would not be visible until viewed by a moderator. I imagined I was past that, as it happened the first time. Why has it happened again?

 

[Grateful]

Hi

Did the pulmonologist suggest any underlying cause for you getting pneumonia? Usually they will check that, but you have to bear in mind that perfectly healthy people can and do acquire pneumonia since opportunistic pathogens do what it says on the tin ie. they are opportunistic.

Antibiotics can cause neurological problems, amongst other unwanted effects, which is one of the reasons why reputable doctors strive to minimise prescribing them; they can also damage the liver. I'm pretty sure that you agree that this is a price worth paying when you have a potentially life threatening pneumonia.

Essentially what your doctors are now saying is that there are vast numbers of possible explanations for neurological symptoms and it's a process of elimination in order to arrive at the right diagnosis; that sucks but ALS sucks a great deal more so you are eminently sensible in grasping that fact.

I appreciate that lower motor neuron problems in themselves are a heavy load to bear, and I will keep my fingers crossed for you as well as wishing you the best of luck for the future. It's not very scientific but, unlike the snake oil peddled by people who want to make money exploiting the very natural fears of people with motor neuron problems, it can't do you any harm...