Hi Everybody,

No diagnosis yet, been getting tested and weaker for two years. Checked out Cushings, MS, ALS, MG etc... My symptoms are right out of the list on the KD.org page of symptoms.

I do have a high Epstein Barr (chronic type) as well. (2400)

My stuff:
COPD, Moderate Obstructive Sleep Apnea, GERD,
Dyspyagia with no cough reflex. Swallowing difficulty. Can't use a CPAP anymore because stomach contents go down the lungs. Prop myself up etc....
Tremors-yep.
Normal Babinski
Terrible weakness Legs and Arms and everywhere else. Gait problems recently, stumbling etc.
Numbness and Tingling moves around, arms are pretty bad. (Water the yard with the hose and they go nearly completely numb) Bi-lateral carpal tunnel and lateral upper extremity "other" nerve damage by EMG.
Reflexes could be better but respond.
I have had massive fasciculations in the calves for nearly 3 years no let up. Twitches elsewhere. (Shoulder, Butt, Thighs, etc...
Myalgia all over at present.
The cramps. Yep.
When I yawn and stretch, my entire upper half shakes.
Calves are pretty tight.
Just minor man-boobs but hopefully they will get smaller as I am losing weight.

etc......

I have had two MRIs a year apart with no MS type lesions. Blood work has minor changes but nothing wild.

Spine MRI has some anterior spondylosis (C-5-6 area,) reverse cervical curvature and nearly kyphotic at C6-C7 with some vertebral hypertrophy and slight impingment on the spinal cord but nothing serious. Some minor disk bulge around C-5, L-Spine, Some hypertrophy and a minor disk bulge at L-3-4)

Question:

What is the name of the Genetic test that I should speak with my neuro about?

Does the CPK always read high in KD?
I think mine have been within normal range but I will check again.

Thanks for letting me stumble in. I hope you are all doing well.

Wombat

Oh Yeah, Onset of majority of symptoms at age 49, now 52.
Thanks.

W

Hello, Wombat
Whew, sounds like a rough go, especially with the uncertainty of not having a diagnosis. There is some info here: http://www.kennedysdisease.org/res_dna.html that your doctor should be able to translate into the proper DNA test request. Stay happy and let us know how the testing goes.

Thanks Cam. I just needed to look around a little more. I'll keep you posted. I'm keeping my spirits up but it would be easier if I knew what was going on. I appreciate the info and I am grateful there are various boards out there to bounce things off. I do have one male family member (nephew) with SMAIII. Guess I should get it checked.
Thanks again.

Wombat

Hi Everybody,

Happy New Year! Had a neuro apt. at a fancy east coast famous place. They were focussing on MG. I have a bit of a funny gait. I pretty much waddle until I get warmed up. They took some more blood. Normal except waiting for the muSK test to come back. Another appt. in 4 months. I brought info on Kennedy's, I think Dr.s get ticked when you suggest something. Didn't get a SBMA test. I will wait until the appt. in 4 months. If no better then, I have a Doc who works for me. I'll get a script for the test and pay for it myself.
Otherwise I'm still kicking but mainly the same symptoms. I hope all are doing well.

Regards,
Wombat

Good to hear an update, Wombat; it's tough to hang in there whilst the wheels of medicine turn slowly. I would not be happy if the doctor did not listen to what I brought to the table; if he/she will not give you a test for Kennedy's, he should at least tell you why he is discounting it.