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SavoringLife

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Hello all,

We are new to this board (this is our first post), but after reading previous threads, we are certain one of you will be able to help us. Today, my husband was given a diagnosis of a motor neuron disease, however the neurologist said he wasn't ready to be specific on which MND as my husband presents an atypical (and conflicting) set of symptoms. So, we are posting here today to see if anyone else has experienced this. His symptoms are: neck flexion & side-to-side weakness, hyperreflexia, clonus, fasciculations, weak voice, dysphagia, shoulder & arm weakness, cramping all over. The conflicting things are that he still has all his fine motor skills, lots of leg strength, elevated muscle enzymes (CPK and aldolase, which usually indicate muscle myopathy, not MND), no foot dropping or head dropping and the muscle biopsy showed no denervation, however it also didn't have any inflammation.

Thanks so much for any insight or help you can give us!
 

wright

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Sorry you have to be here

I have a few questions for you if you don't mind:


1) What was the progression of his symptoms?

2) How elevated are his muscle enzymes (could you give us the actual values)?

3) Does he have any atrophy . . . and if so . . . where and how much?

4) What did the EMG show? If you have the report, it would be helpful if you could transpose the results here.

5) Does he have any weakness in his hands . . . or is his weakness confined to his neck, shoulders and upper arms?

6) What muscles were biopsied and how long ago?

7) How long did it take for his diagnosis?

Sorry I don't have too much to say at the moment, but I'd like to get a more complete picture before I lend an opinion.
 

SavoringLife

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Thank you so much for the quick reply. We really appreciate it. And, yes, we're happy to share all information with have. So, to answer your questions:

1). Progression of symptoms: Left shoulder weakness, progressed to neck weakness, then voice and dysphagia over the course of 10 months. We don't know when the fasciculations, hyperreflexia, etc. started because we hadn't yet sought treatment, so discovered these were present at the first neuro examination.

2). CPK = 1200. I do not know what the aldolase level is.

3). No complete atrophy yet, but definite shrinking of muscles in his upper back/shoulders. You can see his shoulder bones.

4). I'm not too familiar with reading an EMG report, so will transcribe the physician's comments. He's had three so far.
March '08: Motor and sensory nerve conduction studies revealed normal distal latencies, amplitudes and conduction velocities for right median and ulnar nerves. F-wave latencies were within normal limits for all nerves tested. EMG exam performed with a monopolar disposable needle electrode on the muscles of the bilateral upper extremities and cervical paraspinals. There was spontaneous activity in the form of fibrillations and positive sharp waves in the muscles of the left C5 myotome. Analysis of motor unit action potentials revealed some increased polyphasia with normal recruitment. This is an abnormal study. There is electrophysiologic evidence of moderate, subacute, left C5 radiculopathy. There is ongoing axon loss appreciated. There are some chronic changes in the form of polyphasia noted.
June '08: Nerve conduction studies were normal. Needle EMG showed large amplitude motor unit potentials with moderate interference pattern. There was denervation seen in proximal muscles. This is an abnormal nerve conduction study/EMG of threee extremities showing evidence for a mixed picture that could be consistent with motor neuron disease, however myopathy cannot be ruled out. Clinical and pathologic correlation is indicated.
Aug. '08 (today): I do not have a report, but after the test was finished, the neuro said that, based on the results, he could confirm a diagnosis of MND.

5). No weakness in his hands. Confined to shoulders and neck so far. He has been a weightlifter since high-school (he's 43 now), so has always been super strong and in good shape. (In fact, side comment -- he has used protein powder and creatine in the past to bulk up -- could the excess glutamine have contributed to the development of this disease? He hasn't taken anything for several months.)

6). Right deltoid muscle was biopsied in June 2008. Diagnosis on report reads, "Myopathic changes. Examination shows moderate variability in muscle fiber size. Some fibers (8-10%) contain internalized nuclei. There is no myofiber necrosis or myophagocytosis. There is no inflammation. Occasional regenerating fibers are seen. Stains for NADH show normal staining pattern. Special stains demonstrated normal lipid and glycogen. Stains for Congo red are negative for amyloid. Immunohistochemical stains for slow and fast myosin do not reveal group atrophy or myofiber type grouping."

7). We first sought treatment in March '08. Received diagnosis of polymyositis in late June based on muscle biopsy. Began IVIG & Prednisone treatment. Did not respond to treatment, so we were referred to a neuromuscular clinic in Connecticut. That is where he had his third EMG today and received the MND diagnosis.

Thank you in advance for taking the time to read all this. We really appreciate any insight or thoughts you might have.
 

wright

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Hello again

The only thing that I see that conflicts, is the muscle biopsy indicating myopathy. The EMG clearly showed chronic denervation (polyphasic units that were high in amplitude), so the muscle biopsy should have shown fiber type grouping (that is an indication of chronic denervation). That is a bit odd.

The elevated CPK is only moderately elevated, but that can be seen from time to time with MND.

Is it possible that something other than MND is happening? The only scenario I can come up with, is some type of autoimmune disorder that is causing his motor nerves to be damaged (neuropathy) as well as his muscles to be damaged (myopathy). I'm not sure if a disorder exists, because it would mean that the autoantibodies produced with such a disorder, would have to recognize and attack his nerves and muscles. I certainly don't want to give you any type of false hope, but stranger things have happened.

Having said that: the hyperreflexia and clonus are a bit concerning. Neuropathy typically presents with diminished or absent reflexes.

I think you are in very good hands with your neuro and it appears that he/she isn't 100% confident of the diagnosis. I'm sure more tests are forthcoming.

Take care and please keep us informed and lean on us if you feel the need.

P.S. One more question: is your husband in any type of pain (and if so, what kind of pain is it ) or does he have any type of sensory symptoms (e.g. numbness or tingling)?

P.S.S. Some people don't respond right away to IVIg. Don't lose hope.
 

SavoringLife

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Hello again,

It's been a few weeks since we posted this original question. Please know that we were greatly comforted by your thoughtful & insightful response. To update you, it's been 8 weeks since the IVIG and my husband has, unfortunately, still not responded to the treatment. To answer your question, no, he has not experienced any pain, and in fact, this is problematic. As a weightlifter, he kept trying to lift more and more weight to make himself sore and in pain, thinking he was breaking down the muscle and then could strengthen it. But, no matter how hard he tried, he just could not make his arms/shoulders sore. His legs, by the way, are fine -- still strong and fully functioning.

Last week, we were able to get an evaluation at Columbia University's ALS/neuromuscular clinic in NYC. After reviewing previous records and a 2-hour physical examination, they stated they were perplexed by my husbands symptoms and not prepared yet to confirm the MND diagnosis we rec'd at a Connecticut-based ALS clinic. Especially perplexing was that he still has his fine motor skills and strength in his hands almost 2 years after weakness started in his shoulders.

They ordered another EMG, which we took today. No results/opinions yet from that. We're also seeing an infectious disease specialist tomorrow -- we read an article in the paper that there have been a higher-than-normal number of ALS cases in Western Connecticut. One theory is that it is actually a tick-borne disease that mimics ALS, but hasn't yet been identified.

Please feel free to pass on any thoughts you may have. Clearly you are very knowledgeable and we so appreciate your insight.
 
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