What could it be? Am I in the right spot?

[Huskermom1]

I am posting this on behalf of my husband who is displaying some very scarey symptoms. Any input on his symptoms would be greatly appreciated. (I realize that some or all of his symptoms may not be related to each other but just knowing that I am in the right place or can be directed to the right place could make all the difference)

He is 42 y/o

Past History:
1. AVN (avascular necrosis) bilateral hips diagnosed age 32 --he has hip resurfacing on both sides now
2. Lumbar fracture age 9 not diagnosed until age 17...he had a fusion with no instrumentation
3. Hypertension

Recent history:
1. Just diagnosed with seizures five days ago--it started in 08/10 and was mis-diagnosed as anxiety attacks initially (his father had seizures but it was concluded that it was due to a traumatic injury and not genetic)

Testing:
1. EMG showed: a. carpal tunnel b. left long thoracic nerve palsy with active and chronic denervations in the serratus anterior c. negative for distal nerve entrapment in the legs, myopahty, MND, and generalized neuropathy or radiculopathy
2. Brain, cervical, lumbar MRI normal
3. Basic "family practice" bloodwork normal

Here's his story:

He spontaneously started to have severe cramps in major muscle groups: calf, foot, hip and one time in his shoulder. So painful, that it made him cry. During one episode, it caused a hematoma in his hip--we thought he tore a ligament.

He ended up walking with a walker (we kept it from his previous hip surgeries). While he was walking, he would be "bobbing," shaking, and almost had a parkinsonian type walk--I know for a fact that he does not have parkinsons. I caught it on film and the neuro said, "That's odd." --of course that's not what I want to hear. :razz:

We saw a neuro doc in 11/10. The results of the EMG are above and she did not see any symptoms of MND in her physical. She did note an essential tremor in his hands and did witness a cramping episode--to which she said was "mainly" in the legs--but it has been in his shoulder once.

She made a phone call to my husband about a month later and said, "I think I know what you have." She, unofficially, diagnosed him with Stiff Persons Syndrome. And referred us to another neurologist. (oh ya, she saw his "anxiety attack" on film and said, that's a seizure.)

So, we went to the other neurologist this past week. She saw the film of his walking and his seizures. She officially diagnosed him with seizure disorder. And, well, the walking was "odd."

I told her that we had a severe cramping episode in his chest, abdomen, and shoulder the previous weekend. He was, also, having a seizure and turning cyanotic at that time. She made a comment that the cramping was "progressing up."

In her physical, she talked aloud to herself, "clonus, positive babinski, motor neuron disorder." I said, "speak English." She just said that he is showing signs of motor neuron disorder and wants to run more tests.

I pointed out that one leg is significantly smaller than the other.....she said it could be due to his AVN. (although I didn't think of it at the time, my husbands muscle bulk seems to be going away---the first neuro did state that he has less than what she felt a "normal 42 y/o" should have)

So, as it stands, he is being tested for multiple autoimmune disorders: MS, sjogrens, MG, etc......She is addressing his AVN and ordering clotting disorder tests. She, also, has lymes on the menu. Throw in a thoracic mri, too.

If these tests come out normal, he will get a lumbar puncture.

WHEW!

There is good news, his cramping isn't everyday now...like it was in oct/nov last year. However, he had a seizure last night and did the "bobbing" walk that I haven't seen since last year.

Oh, well. I'm open to all suggestions, comments, etc....Give it to me!

Thank you for listening.

 

[Zaphoon]

Huskermom1,

It looks to me as if you are now in the "wait and see" period. This doctor that is looking at your husband now seems to have a good handle on the situation and is going to go through the testing process which can take a while.

My recommendation is to be as patient as possible while all of this testing is going on. It looks to me like you are in good hands with a caring professional.

 

[Huskermom1]

What types of disorders should I be anticipating with everything that is going on with my hubby? (it's my personality, I don't like surprises...and, I am in the medical profession, so ANY knowledge would benefit me)

 

[Zaphoon]

The clonus and Babinski sign are indicative of upper motor neuron dysfunction. I know these two disturbances to be common to MS and PLS as well as a host of other disorders, syndromes and diseases.

Motor neuron diseases can involve:

upper motor neurons only (as in PLS)

Lower motor neurons only

or

Upper and Lower Motor Neurons (as in ALS).

The EMG will only detect lower motor neuron involvment.

Upper motor neuron involvement is evidenced by pathologic reflexes (as in Babinski); clonus; spasticity; stiffness and hyper reflexes (4+ reflexes include clonus).

It's very difficult to know what to expect in the way of progression without a definitive diagnosis being issued. If it winds up his troubles are due to Lymes', your husband can be treated and you can expect great improvements and recovery. If he has something that is progressively degenerative in nature, you can only expect his condition to worsen.

Let's hope they find he has something treatable or perhaps even curable!