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declining neurological statis
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declining neurological statis

My husband is 41 and for the past 2 years has been declining in health rapidly. He has been having memory loss and Increased muscle weakness in both his upper and lower extremities. They have done 2 EMGs which both has come back normal. They have done 3 muscle biopsys which the ones on his thigh and on his inner upper arm have come back normal but the one on his calf came back with chronic neurogenic atrophy. They have done blood levels and the CPK has come back 400. They have done this a couple of times and the levels never go down. They have done an MRI of the brain which came back normal and one of the C-Spine which came back with C5-C6 disc-osteophyte complex has effaced the ventral subarachnoid space and mildly narrowed the left intervertebral foramen. C4-C5 endplate spurring has moderately narrowed the left intervertebral foramen. He has seen 2 neurologists in the past and both have been very good but have failed to tell us what is going on with him. The last one we seen had a fellow neurologist with him and he noticed that my husband has no chest muscle mass at all and his face muscles are deteriorating. Needless to say my husband is very frustrated and continues to get worse. I am very concerned. We are scheduled to see a neurosergeon tomarrow re: his MRI films and we still dont have a diagnoses. His grips are getting weaker and sometimes he will drop things. He kicks like crazy while he is sleeping and there are alot of times he doesnt sleep at all. please help us and give us your opinion.I know you dont diagnose over the internet but if you could tell us which way to go it would very much be appreciated.
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Dear Diana McClintock:

I am sorry to hear about your husband.  I guess I need to assume that all his laboratory work-up thus far is normal with the exception of a mildly elevated CK (also assuming it is all from muscle), and that his muscle weakness is demonstratable on neurological examination, so that all of his neurologist agree that there is profound muscle weakness.  As you know, at ge 41, he is young and obviously this should not be happening.  

First, is the muscle weakness due to a central or peripheral problem.  If the weakness is accompanied by increased reflexes, limb spasticity, this would suggest a central process.  If the reflexes are weak, muscles are atrophied and weak, then this suggests a peripheral process.  The normal EEG makes this confusing, but if peripheral process then there should be changes such as conductions slowing or amplitude changes.  

If there are other systemic changes, such as declining heart function, HTN, liver problems or kidney dysfunction, this may lead one toward the diagnosis of a systemic problem inducing his decline.  Specific laboratory studies should have indicated one of these possibilities.  

From the information, I am stuck.  A normal EMG rules out ALS, and lack of systemic findings suggests that multisystemic atrophy is not likely.  The normal finding of CSF analysis and lack of prion protein together with clincial symptoms of emotional lability with startle myoclonus rules out CJD.  The normal labs and brain MRI rule out most of the common degenerative diseases.  

I am sorry that I am not much help.  I truely hope that an answer can be found.

Sincerely,

CCF Neuro MD
4 Comments
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Avatar_n_tn
Has your neurologist or PCP considered working your husband up for a mitochondrial disorder?  I had a normal EMG and normal EEG, sl. abnormal SEP...normal CPK but slightly elevated lactic acid.  Very abnormal EKG in muscle junctions...muscle biopsy showed mild type II muscle atrophy, but further investigation showed red ragged fiber.  Pulmonary function and stress test supported diagnosis of mitochondrial myopathy....just something to think about.  I have lots of weakness in all extremities, and have lost some muscle mass.
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Avatar_n_tn
I'm really sorry to hear about your husbands symptoms. It is particularly difficult that you do not have a diagnosis. I'm in that state too, symptoms, but no idea what is causing them.
I saw something similar on the Mass General Neurology web forum. Search for a post entitled Multi-focal motor neuropathy (MMN). I think it was on the general and rare board. It seems that these people have similar symptoms. The boards are active and many knowledgeable people might be able to give you a place to look, suggest tests and questions to ask.

Best wishes for an answer and a treatment strategy.

My heart goes out to you and your husband.
He is lucky to have such a supportive wife. I'm sure he know that, but may not always say it.

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Avatar_n_tn
http://neuro-mancer.mgh.harvard.edu/ubb/Forum1/HTML/001743.html

Here is a new post referring to MMN. It is evidently very rare.
Follow its leads. Perhaps it is an answer, perhaps not.

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