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.
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.
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.
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