Waiting and worrying

[plcare]

I'll try to keep this as succinct as possible. I have been experiencing a variety of symptoms for several months. Symptoms have included; shortness of breath, fatigue, tripping/falling and most recently atrophy and weakness in my left leg. I have been evaluated by a pulmonologist, endocrinologist, and cardiologist with no explanation for my condition.

These physicians have conducted: MRI's of my brain, cervical spine and lumbar spine; complete body PET scan; pulmonary function tests; cardiopulmonary exercise test with cardiac catheterization; cardiac MRI; endless blood tests; and probably some tests that I am now forgetting. None of these tests were able to explain my condition.

When my cardiologist/internist noticed that I had started walking with a cane and that I could no longer lift myself from a chair without using my upper body he immediately scheduled an appointment with a neurologist. I mean the cardiologist actually walked down to the neurologist's office and scheduled an appointment for me for the same week.

The neurologist administered a nerve conduction study and an EMG. He said the NCS was good, but that the EMG in both of my legs was not. He said that I have a "central nervous system disorder", but that he wanted to do a thoracic MRI before he provided a final diagnosis.

I am a 55 year old male, and prior to these last few months I had been in excellent health. I have always been an athlete and have always exercised and maintained my health. I could outwork or outrun most men half my age.....until now.

My left thigh atrophied first, and is now just a fraction of what it used to be. The quad muscles have just disappeared. Over the last week or so my left calf has also atrophied. Walking has become a challenge even with a cane, and I still trip and fall frequently. It feels like my muscles just do not listen when I try to use them.

So I go for the thoracic MRI tomorrow and then see the neurologist next week to review that test and for diagnosis. I am very concerned that he is going to tell me that it is ALS. Any thoughts, ideas or input from the folks here would be greatly appreciated.

 

[Nikki J]

If you can get and post the emg report ( tables and summary deidentified) we could perhaps tell you more.

Were your pulmonary function tests normal? People with ALS and breathing compromise do not usually have normal pfts.

Your symptoms are obviously concerning and your emg apparently had significant abnormalities

Is this a neuromuscular specialist? If you get a neuromuscular diagnosis you should be seeing a neuromuscular doctor. We generally advise 2 neuromuscular opinions

 

[plcare]

I did not get a copy of my EMG test results. My PFT results were abnormal with the FEV, FVC and DLCO all in the 60-70 % of normal range.

My neurologist does specialize in neuromuscular disease and electrodiagnostics, so I feel comfortable with his knowledge and experience. There is an ALS center of excellence in Tampa, so, depending on the diagnosis, I plan to go there for a second opinion.
Thanks so much for your response. I'm trying to stay calm and optimistic, but the waiting is difficult.

 

[KarenNWendyn]

I agree with Nikki, and that posting the EMG report would be helpful.

The most likely explanation would be nerve root compression.

Other possibilities include an underlying autoimmune condition, which could also account for other organ systems being affected. Occasionally with these conditions, the sed rate (ESR) and CRP may be elevated and there may be a positive test for ANA or RF (rheumatoid factor).

Another thought would be an inflammatory myopathy (muscle disease) including the possibility of inclusion body myositis. Some of these are autoimmune. EMG is usually abnormal with these conditions, but is consistent with a muscle disease rather than with denervation. If the evidence stacks up in favor of a myopathy, then ultimately muscle biopsy confirms the diagnosis.

The rapid onset of some of the symptoms goes against ALS and is more suggestive of nerve root compression or an autoimmune process.

ALS really does not seem likely given your presentation, but the EMG results will help sort this out.

 

[Nikki J]

Without knowing the emg then we really don’t know what is on the table still. However, whatever the diagnosis you need to keep safe. Falls are very dangerous of course. A cane is clearly not appropriate right now. A rollator/ walker may be. You may need afos ( ankle foot orthotics / leg braces) or a wheelchair.

We have had members who never recovered from a fall and a couple who sadly died from one. This may not be ALS - we don’t know- but the risk is the same with other conditions with weakness and falling

 

[plcare]

Karen, thanks for your reply.
I have already had negative tests for sed rate, ANA, RA, myositis, thyroid, parathyroid, myasthenia gravis, cardio myopathy, and many more potential explanations. As far as I know, the only tests that have yet to be performed are muscle biopsy and spinal tap, which I think will be next. The fact that so many other conditions have been excluded is what has me concerned.

 

[lgelb]

Regardless of what you have, you have the legal right to copies of all your reports, and to receive the best care, should always keep copies for yourself as well as being prepared to bring/send them to new docs that you may see for consultations/second opinions. We don't have a health care system where everything is available and missing information can carry a high cost.

You should also read everything so if someone makes a statement that is incorrect or contradictory, you can question it. It's not fair, perhaps, that you are your own best auditor but such is the reality.

As Karen and Nikki have said, in this case, we really can't comment how far things have been narrowed down without seeing the EMG. EMGs are abnormal for many reasons, and I hope a non-ALS reason in your case.

Best,
Laurie

 

[plcare]

Just received my diagnosis from my neurologist... I have primary lateral sclerosis. Trying to make an appointment at the Mayo clinic in Jacksonville for a second opinion.

 

[Nikki J]

I am sorry you got an MND diagnosis. A second opinion is an excellent next move. PLS as you know is very rare

Did the doctor explain why PLS and not ALS? I know you said your emg was somehow abnormal. Honestly, your symptoms sound very aggressive for PLS which is usually a provisional diagnosis for the first several years.

 

[Kristina1]

Im also wondering why pls and not als. With this diagnosis you can join the regular forums and no longer be limited to posting here. Sorry to hear of your diagnosis.