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Kennedys disease

PostPosted: September 1st, 2015, 4:07 am
by Tb12
I'm really concerned about kennedys disease as my symptoms match up to that more than anything, has anyone on here had any kennedys disease scares that turned out not to be that?

My neuros have never tested for it each time I have asked about it ..

Really worried.

Re: Kennedys disease

PostPosted: September 1st, 2015, 6:46 am
by Yuliasir
this is a rare genetic condition, and you MUST have familial history of it.
Do gene test and you would know for sure if you have it.

Re: Kennedys disease

PostPosted: September 1st, 2015, 7:25 am
by Tb12
Thank you for your reply. When you say family history what would I be looking for? Would someone in my family have to have had it?

Re: Kennedys disease

PostPosted: September 1st, 2015, 12:28 pm
by Yuliasir
yep and as far as I understandd, those should be relatives on mother line and on her mother line (but only males), like in case of haemophylia.

Re: Kennedys disease

PostPosted: September 1st, 2015, 9:20 pm
by Tb12
thank you for helping me understand better,

my mums mother has one son who is in his fifties and has no signs of anything neurological wrong with him, my mum only had me and another girl.

i have asked my mum about it and her mum and they have no recollection of anyone in the family having anything of this nature and don't even know what I'm talking about, they have never heard of kennedy's disease. does that mean i can't have it? can males be born by women who have the gene and not get the disease?

does a neurologist need to order this gene test? or is it a basic gene test that i could ask for from a local dr?

Re: Kennedys disease

PostPosted: September 1st, 2015, 11:16 pm
by Yuliasir
Well, virtually ANY gene disease could be a spontaneous mutation. For example, EDS (ellers danloss syndrome) which I definitely have (born with club feet, still have extra mobility in most of big and in some small joints in my 45, scoliosis etc.) is usually hereditary, but none of my family members I remember or could investogate does not report that, so mine seem to be a spontanous mutation case.

Neurologist would not order you gene test for kennedy, I think, becasue you probably may not demonstrate clinical weakness or bulbar symptomes which may them to suspect EITHER ALS OR KENNEDY which means the need for differentiation with ALS (which is the most probable differentiating diagnosis in case of ALS suspiction, maybe except compression syndromes). The only difference is that Kennedy disease does not kill in such inevitable rate and in just few years, so prognosis is much more positive...
Ask any gene labs available on internet if they need a medical referral to perform this test, but I think it would be just for your own interest.

Re: Kennedys disease

PostPosted: September 2nd, 2015, 5:07 am
by TwitchyDoc
While I stopped posting on this site, I will make an exception and clarify (and I apologize for not answering to PMs and I am not going to...):

First - SBMA (Kennedy''s disease) is basically benign. In its advanced stages (after 20-40 years from the first symptoms) patients are usually "only" wheelchair bound, some may have dysphagia/dysartria to some degree. I have seen only 1 patient, using crane recently and he was diagnosed in 1991 in his thirties.

I would correct a bit what Yulia said - some patients do not have known family history so not having relatives with SBMA does not exclude it. For example the gene could have been passed from grand-grand mothers to their daughters and as long as there are no males affected, the first one seems to unrelated. In addition, it could be a mutation - there are reports of patients with no other family members affected. It is little known fact that woman carriers sometimes exhibit slight subclinical weakness and/or tongue fasciculations but they never develop the full blown disease.

SBMA is not that difficult to diagnose even without the gene test as its classic representation consists of proximal weakness, generalized fasciculations and decreased reflexes along with signs of androgen insensisivity, although these might appear later. A typical sign is a large increase in CPK revealed by blood tests (much higher than in ALS). Many say that chin/lip fasciculations are nearly pathognomic for SBMA, I do not think so as I have seen in many people including those with BFS. But it is true that due to the nature of the disease, these sites are commonly manifesting florid fasciculations. Also fasciculations are usually confined to proximal regions (thighs, arms, face and neck).
There are documented cases of patients having fasciculations and cramps for a decade before any further signs - again, this condition is nothing like ALS.

Re: Kennedys disease

PostPosted: September 3rd, 2015, 11:12 pm
by Tb12
Thank you both for the information you have given

While I feel I have proximal weakness and so much pain in my shoulders and hips and knees and instability like trembling muscles the drs found no clinical weakness and my ck levels were normal and I feel that's why they didn't give me the test.

However now I have bulbar issues that I don't know the cause of and ongoing what I feel is proximal weakness.

How accurate is the CK marker?

Re: Kennedys disease

PostPosted: September 3rd, 2015, 11:20 pm
by Yuliasir
1. We should be very careful talking about bulbar issues, I mean, avoid self-diagnose becasue we often can take other symptomes for bulbar.
2. Due to CK test nature, if it is NORMAL - it is NORMAL. If it is high, it is often of low diagnostic meaning because it gets high every time after infection, workout, long walk etc. It has diagnostic meaning in case of obvious heart attack, to confirm infarction, very high (over 5 times norm) and consistent increase could be a feature in case of mucle degeneration due to atrophy (no matter what causes it). but if it is normal - it means you have no pathological processes in your muscles, and your pains and weakness have another nature, not caused by physical decomposition and degradation of muscles.

Re: Kennedys disease

PostPosted: September 4th, 2015, 3:28 am
by Tb12
Thank you Y.

So the fact I have been active and had the ck test and it was normal is a positive thing regarding maybe not having a kennedys diagnosis?

My main concern with my bulbar issues is the phlegm and small particles of food being stuck and I have swallow a few times or have some water to get it down, my mouth always feels dry when I eat ..

I have a lot of heartburn, reflux, and belching..

Even tho the food particles get stuck I never ever feel choke or cough I can just feel them and sometimes it tickles.

Re: Kennedys disease

PostPosted: September 4th, 2015, 4:15 am
by Yuliasir
My dear friend, from your symptomes it looks like you have not a bulbar concerns but much more common disfunction of GIT, saying in plain words, gastritis and esophagal spasms/oversensitivity. I share the same symptomes by the way.

And many other people here do share them.

Our GIT from the mouth to virtually the other gates is controlled unconsciously (automatically) by autonomous nerve system - same as heart, bladder and functions of endocrine and exocrine glands (various internal hormones, sweating and salivation). Autonomous nerve system is a kind of great and very finely attenuated balances on which important functions of our body are placed. Stress hormones, such as adrenaline and cortisol, are causing many reflectory actions involving automomous nerve system, and therefore prolonged stress causes those balances to produce erratic 'shakes'. Our stomach juice may become too acidic (like in my case) or too neutral. We have painful and not clearly atrtributed to infection or poisoning spasms of the guts. We have reflectory weakening of upper stomach sfincter, therefore we have a heartburn or - sometimes without any pain - just swelling of esophagus and throat. We have hoarse voice, cough after meals, pain in the throat, painful swallowing, feeling of food getting struck or staying in the throat or lower, but we still can drink and eat without any cases when food did not get in there. This is all symptomes of autonomous disfunction caused by stress.

Gastorenterologist could not relieve you from stresses, but he or she could provide you with some meds or diet to prevent acid reflux (becasue chronic acid reflux is dangerous).

hope this helps to get your thoughts away from neurodegenerative diseases