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Unusual problem!
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Registered: 10-13-2017
Posts: 7
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Hi!
I have a rather strange problem. Want to know if anyone here recognise it.
First a little about myself:
I have suffered from exhaustion for many years. If i cross that limit of energy it takes 2-3 days to get ok again.

Doctors have during these years examined me. They didnt find anything wrong but:
Im a carrier of Kennedys disease or SBMA. My father has the muscle disease and me and my sisters are carriers. Female carriers of SBMA can develop symptoms but its very rare(!!!) and mostly late in life.

My symptoms are :
fatigue, 
attacks of exhaustion in days when the fatigue is bad and I have to do something that takes energy. 
I have had problems with headaches, ectopical heartbeats, neckpain,
weakness in shoulders and becoming very tired in arms when lifting arms up.
I have so much muscle-troubles in legs (sort of like cramp with weakness) that makes it Very hard to walk in stairs.

No to my question/topic:
I also have a problem that seams to get worse over the years: 
my body cant tolerate pressure!
With that i mean pressure from tight clothes, pressure from sitting on a hard chair/ bench
and when lying down on my bed it feels like the gravity really puts a terrible pressure on my body.

Its not pain!! I feel fatigued and burdened and squeezed, weak and compressed with the pressure.
It gets worse if im very exhausted or if the bed is firm.
Have to lie very soft and elevated with many pillows.
At times i have woke up in the night and I have felt so squeezed and weak with the pressure the bed puts on my body, that i thought i was going to collapse and die!
After some time of sitting in bed i start to yawn and get random shudders up and down my spine, over and over: and that helps!, thats making the squeezed burdened feeling to go away, slowly. Its like yawning and shudders stimulates my body so everything starts to flow in the right way again.
Its so weird!!! I know!!! Doctors dont know what it could be. I had this for 4 years. But it gets worse. My body cant stand pressure!!
Does anyone recognise this?????
Feel alone in the world with this problem. And scared because it just gets worse.
Very very thankful for replies!!!
And sorry for the long text.
Best wishes 
Elvira

This message has been edited. Last edited by: Elvira,
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 192
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Elvira, while KD may be contributing to your symptoms my guess is you have something else going on too. Even though your doctors haven't found it yet I would keep looking for answers.

I'm a 53 year old man with KD (50 CAG repeats) and I used to have most of the symptoms you describe and now I don't have any of them.

In my case I was pre-diabetic and obese - despite not being very heavy or looking particularly fat due to loss of muscle. I started tracking my blood sugar and eliminated foods which caused unhealthy swings in my blood glucose readings - basically anything with sugars or high glycemic carbohydrates. I improved my sleep, reduced stress, and improved my exercising. And my weight has dropped and I feel much better.
Registered: 10-13-2017
Posts: 7
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Hi!
Thank you so much for your answer!
So you really recognise this problem: to feel burdened and squeezed from laying down.
In fact i have just woke up again with this, time is 04 in the night here in Sweden. Now i have to keep sitting for a while to relieve my body from the lying down-pressure .
Maybe i should have my bloodsugar tested. But im not overweight... And im not thirsty or peeing much or these classical high bloodsugar symptoms...
But do you really recognise this this weird problem with pressure and lying down- intolerans?
Thanks again!
Best wishes from Elvira

This message has been edited. Last edited by: Elvira,
Registered: 10-13-2017
Posts: 7
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In a bloodtest showed that im over the limit for developing symptoms of Kennedys . 44 cags and 28 cags. My neurologist said that one x chromosome can be more active than my health x chromosome.
But it sound alittle like they just guess that my problems is because of Kennedys....

Anyone recognise my weird problem.
Please read my first message!
Very very thankful for replies!!!
Elvira
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 192
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Here are more details of things I struggled with, don't know how similar it is for you.

My skin used to dent in from clothing, especially the elastic in underwear and socks and could lead to redness and sores. I struggled with poor circulation and coldness in my feet and hands made worse by tight socks or gloves. The pressure on my legs from sitting on the toilet for a few minutes would impair blood flow and my legs would get numb making standing up difficult. Lying on my side in bed would often impair blood flow to the hand or foot I was lying on, sometimes the entire arm or leg would go numb. The weight of blankets sometimes seemed oppressive and lying on my back breathing could feel restricted, especially when sick with a cold or flu and I would have difficulty sleeping. Often I would turn and get the top sheet pinched between my body and the bed and then I would struggle to get off of the sheet.

In my case I did not become heavy, my weight was the same as in my early 20s when I was very lean. But I had become obese having lost many pounds of muscle and gaining pounds of fat. Kennedy's disease contributed to the muscle loss and thus all of those issues. But after losing some of the fat all of those issues went away.

The genetic test shows you are a carrier of Kennedy's disease but says nothing about to what degree you will develop symptoms. For men there is much variability in severity and the correlation to repeat count is weak. Women generally express symptoms to a much lesser degree. Research indicates the difference in testosterone levels between men and women is likely a significant factor though there would also be protection due to whatever degree a women's androgen receptor protein comes from the good gene.

Health is complex and there are many causes of fatigue. Continue seeking other factors that may be contributing to your issues and with luck you'll find some of them are things you can fix to obtain relief.
Registered: 01-08-2013
Posts: 61
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Good morning, I have had (and still do have) numbness and neuropathy when staying in one position for any length of time. This is usually exacerbated by cold. Kennedy's has as one of its symptoms, loss or diminished deep tendon reflex, something which is also seen in hypothermia and edema. Muscles play an important role in circulating both blood and interstitial fluid. Diminished capacity to maintain pressure differentials between the two can allow electrolyte imbalances. Hypoventilation (too little oxygen) can add to the problem. As Todd has said, I would continue to look for other causes and therapeutic treatment even if you feel the root cause is KD. I have found that wearing compression socks has improved some issues for me (it does take time to get used to them)and limiting salt intake, along with regular stretching and exercise. Try a heating pad near your feet at night. You may be pulling yourself in tight at night due to an exaggerated sense of being cold as a result of diminished muscle tone. (your doctor could get you a blood oxygen monitor to wear overnight which may help in the diagnosis)
Registered: 10-13-2017
Posts: 7
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Hi!
Thank you so much!
I do recognise many of the things you describe!
I will get a time to a "sleep-lab", they will check if i have apnea.
Its very related to the random shudders: i get them after strained ny self and after sitting upp at night recovering from my squeezed feeling. That makes me think it is a circulation problem. Random shudders and goose skin comes with a regulation of the periferal bloodflow....maybe even stimulates the whole bloodcirculation. After one shudder my heart pounds little faster and stronger, and the yawn gives oxygen.
That with the toilet seat, slerping on back difficulties, numbness easaly with pressure...many of the things you write about I recognise!
Maybe my muscles have become smaller, because of not having the energy to exercise the way i used to. And of course they are beeing replaced by fat here and there even if one look rather slim than obese.
Interesting what you both tell me about Kennedys. That cags doesnt determin the severity of the disease. (Sorry if my english is not that good..)
My neurologist said that one x chromosome can be more active than my health x chromosome. Have you heard about that?
And that muscles plays a big part in the circulation!
I will continue my search for what all my symtoms might be.
Thanks so much for sharing and for your guidelines!
Elvira

This message has been edited. Last edited by: Elvira,
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 192
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quote:
My neurologist said that one x chromosome can be more active than my health x chromosome. Have you heard about that?


This is addressed in the subject "X-inactivation" the process by which early in the development of each cell only 1 copy of the X chromosome is allowed to remain active.
https://en.wikipedia.org/wiki/X-inactivation

Normally it is random and 50% of the cells will have the maternal X active and the other 50% will have the paternal X active though in a patchy mosaic pattern with clumps of adjacent cells having the same active X - seen in the case of calico cats and their patches of orange and black fur.

Sometimes though the balance is skewed.
https://en.wikipedia.org/wiki/Skewed_X-inactivation
Registered: 10-13-2017
Posts: 7
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Wow!
Thanks for the links!
Thats deep stuff..

Happy Halloween to you all!! Smiler
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Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614
Tel: 1-855-532-7762
Email: info@kennedysdisease.org