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momofsixkids60

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When I was 25, I was diagnosed with paramyotonia congenita (A form of MD). The symptoms fit (at the time) for what I was having. Now almost 24 years later, I started having new problems; ie: My neck became frozen close to my shoulder and I was unable to use my arm for almost 6 months. It took 8 months and 3 doctors to help me. I had an MRI of the cervical area (negative), bloodwork that shows high muscle enzymes, an abnormal EMG with NCS, negative for stiff mans syndrome (anti-gad and anti-ampiphysin), and negative for Parkinson's Disease (was put on sinemet with no change). I have been on flexeril 10mg 3x and baclofen 20mg 4x. After the EMG, both hands have started with a jerking motion (not a tremor) and I have constant muscle spasms in the backs of my thighs and calves. I also am having problems walking up stairs and doing every day activities. I am scheduled for another MRI of the neck and will be going for another appt. the end of October. When I look up PC, I realize many of the symptoms do not fit; but PLS or ALS do. What questions should I be asking and what tests should I request? If anyone can help, I would appreciate it!
 
I guess the dominant question is whether your stiffness is caused by muscle fibers being slow to release (myotonia) or whether your nerves are sending a lot of erroneous "go" signals to the opposeite muscle group that is supposed to relax (spasticity). If you were diagnosed with PC, it seems that at least at that time your doctor thought it was myotonia. So the first question I would ask is where the stiffness and spasms come from.

Speaking as someone who knows more about upper motor neuron syndomes (which don't appear on EMGs), after 24 years I can't think of anyone who walks without an assistive device... the best of us, the luckiest, with HSP or PLS after 24 years are using walkers at the least. Stairs being difficult wouldn't be a new thing! ALS shows up on EMGs, but certainly wouldn't leave you such strength for so long.

So the next question I would ask is if you are looking at comorbid problems, the original PC and something else that developed more recently. PC gives abnormal emg's while it is active, and you didn't describe irreversible atrophy, so I wouldn't worry about ALS. There is no reason you couldn't have both PC and PLS, or PC and another neurological disease of some kind. I'm not sure how easy it would be to separate symptoms and get a diagnosis though, especially if you are looking at something like PLS which is a diagnosis of exclusion.

The third question I would ask is, "Can I have a refferal to an occupational therapist?" They aren't as focused on what its named, just good at setting you up to suceed at life.
 
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