Hi guys, Can things get any worse or is this doctor just clutching at straws and heightening my anxiety.As you know I have been diagnosed with Kennedy's disease recently, we'll I popped into a local dr just for something small and unrelated to my neuro issues, anyway we got talking and I told him some symptoms that I have that I assume are from Kennedy's etc and he says no I don't think so I think you have crest syndrome/ scleroderma and I need to send you for blood tests.. He didn't even do a clinical examination! I just told him about my swallowing issues, joint pain, muscle stiffness and now he has me going on a goose chase for crest syndrome blood tests and I just researched the auto immune disease and it's not a good diagnosis..I have been to rheumatologist before I was diagnosed with Kennedy's and none of them brought up crest syndrome after examination and this dr didn't even examine me..Does anyone know what the signs and symptoms of crest are? I thought they were swelling and colouR change in hands? Or fingers that can't move etc? I'm so confused.
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Is Kennedys Disease Diagnosis Unreliable?
- Thread starter Bruhman12
- Start date
Well, as far as I understand, you got Kennedy disease diagnosis on the basis of genetic tests, so this hardly could be disputable, right?I realy have no idea whether Kennedy disease could be accompanied with sclerodermia or not. Usually sclerodermia involves quite specific appearance - specific face look, specific form of fingers, skin change on the fingers due to bad microcirculation etc.rheumatologists usually should check patients complainig for muscular and joint pains to make differential diagnosis of RA /sclerodermia, so if your rheumatologist did not suspect that on the basis of immune tests, then probably this is just another guess.CREST in fact is a limited form of systemic sclerodermia and specifically limited by hands. But in this case it usually quite clear in terms of physical changes in the hand appearance, low mobility in joints, quite strong Raynaud syndrome (many of us have it becasue of generally bad microcirculation), calcinosis (formation of hard underscim calcium salts deposits under the skin), cracking skin etc. If you do not have that, then probably you should not worry about another disease.
Thank you Y Your always a youth full of knowledge.. Yes the KD was by genetic blood test but the general dr thought my joint annoyance and swallowing mobility and stiffness was due to crest scleradoma, he mentioned both names... But as I said he never even examined me and I don't have any skin manifestations and or growths under the skin etc... Got cold limbs that's about it but no colour change.
I.ve got a bout of raynaud-like condition once and my daughter has quite a full size one - and I can tell you it is really horrible - white-bluish ends of the figner — till the first or even second joint.. bloody PAIN! we all can have cold limbs bur Raynaud is quite distinct condition. After I had seen my daughter hands, I would never forget that...
FernFinnegan
Well-known member
Trent,My doc at Mayo was going down the CREST road. Initial blood tests negative, but I do have so many of the symptoms. I figured I don't need the diagnosis anyway. Maybe I'll go for more testing in the future, but not now. Do a search, you will find others here with it, or family members. It is a connective tissue disease, along with Ehlers-Danlos - something else to search here. All the best to you!Leanne
Without Raynaud's you cannot diagnose Scleroderma. I think it is completely unprofessional for your doctor to say you have this, or even suspect it - since he's not a rheumatologist. If you don't have Raynaud's you don't have this... Something like 98% of those with Scleroderma have very severe Raynaud's. Multiple people on this board have Raynaud's, but we're talking severe Raynaud's where your fingers turn mutliple colors and you literally have to put them under warm water to get them back to normal.
Hi Gary,As I stated on the other site, I got a call saying results were not normal, I did jump the gun and post on here explaining what I thought was a kennedys diagnosis but what was said by the neuro geneticist when I saw him was this: Your gag repeat kennedys test is borderline right on the border, you don't have high gag repeats so something else could be causing your symotoms, I'm just a neuro geneticist I am not a neurologist so I can't rule anything else out! So it wasn't a normal reading it was right in the middle, I'm only following what drs say.
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