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Registered: 01-11-2019
Posts: 13
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Hi

Me again. No diagnosis yet.

Ive read alot about kennedys disease and how it is very slow progression. With the slow progression in mind, i would assume there isnt much pain in the early days, just a very gradual decline of strength over the years until you get to a stage where you need a cane, then walker, wheelchair etc.

Now up until August of last year my thighs were fine, no pain no problems or anything. Then i noticed slight weakness and knee joint pain when bending or raising from a chair. But since then i seem to be getting worse quite quickly. My thighs and arms are constantly aching and even when im laid in bed i get the muscle aching.

Ive had gynecomastia for 8 years and same with fatigue. Ive had erectile dysfunction and bad labido for years too and maybe some joint pain now and again over that time period.

However, in the last 6 months i seem to be going downhill much faster, its like my body has ramped up the progression from that point.

Is this normal. Ive gone from decorating 2 bedrooms in the summer, to suddenly getting pains and weakness in a matter if months. I dontt think i have the atrength to do 2 bedrooms now. All that change in 5 months?

When i had the emg last week the specialist doing the test told me it wasnt mnd, but to say that he must have been able to see my lower motor neurons were firing ok. So where does that leave me in having kennedys disease. Could it be that these pains are something else like myositis or sIBM? (SIBM is not supposed to be painful, just a very gradual weakness in the muscles over the years and the first sign is falling over)

I was planning on working as long as i could and i assumed i had a good few years left in me. Im 48 and only had a ck of 200 which is only high normal.

Did anyone notice their disease jump in progression at certain stages? Is this a normal occurance with KD? Or do you think i may have a different disease. Ive read average time of progression is 27 years. Now with that in mind and the fact i only noticed onset around 8 years ago i should have a good 20 years left. But i cant imagine 20 years at this rate of progression.

This message has been edited. Last edited by: Shepster48,
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 173
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quote:
Im 48 and only had a ck of 200 which is only high normal.


I think most people with KD have significantly elevated CK. I don't think having high normal CK rules out KD but it would be unusual and I'd speculate probably occurs more with people who are at the bottom end of the CAG repeat count range for KD. I hope you let us know what your genetic test results are when you get them.

I suspected I had my grandfather's disease in my early teens and became pretty certain it was KD by 25 after doing literature searches on my symptoms and the info from my grandfather's autopsy report. I kept KD on my radar, followed KD research announcements and had it confirmed a few years later when the genetic test became available. I used to think KD defined me and was the biggest factor in my life. I spent most of my life striving to be healthy but unfortunately followed mainstream advice which in hindsight was terribly inappropriate for me.

Now I see KD as a significant factor but other factors which I've been identifying and addressing over the past few years were more significant than KD. KD for a few is benign and they only become aware they have it in their 70s. I'm hopeful I won't have significant issues from KD again until sometime in my 70s. I think this is why the description is it has little impact on expected life span. But it could have a significant impact on average life span. The two founders of the KDA both died in their early 50s and while the sample size is small reviewing the memorial section of the KDA website shows significant bias towards younger than average demise. I had one foot in the grave but in my case KD was just a slippery slope in that direction, not the full reason I was in trouble.

KD messes with us at a fundamental level interacting with a huge number of genes, broadly altering patterns of gene expression. It's a push towards obesity especially if you look at it from body fat % and not BMI as many careless researchers do. It's a push towards type 2 diabetes, a source of neuropathy and muscle wasting, and is correlated with increased risk of a huge number of diseases. KD affects some brain regions and can mess with circadian rhythms and sleep with the potential to affect many things. KD has interactions with our immune system and inflammatory pathways which interact with our digestive system which interacts with most everything.

I expect the majority of those with rapid KD progression would find early signs of diabetes such as metabolic syndrome if they only knew to check. Many metabolic biomarkers are considered by researchers as intrinsic to KD such as dyslipidemia, elevated liver enzymes, low GH/IGF-1 and high inflammation markers. But they were reversible for me once I began to understand and address the factors contributing to my shift into a state of poor health.

If you don't have KD, fantastic! Keep looking for the source of your issues. If you do have KD, that's ok too. Accept you have an identified challenge to manage and keep looking to find what other factors are interacting with KD and contributing to your condition.

This message has been edited. Last edited by: ToddAllen,
Registered: 01-11-2019
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Hi Todd

Im pretty sure i have KD. I literally have all the symptoms and have had the gnecomastia, ed and fatty liver for over a decade.

I think the normal CK is a red herring. It was 75 around 5 years ago, its now 200 taken around 5 months ago. Since it was taken my muscles have gotten weaker and more wastage. Im reckon its much higher now.

I have never been muscular and always struggled to put muscle on. My legs and forearms have always been thin.

Reading about KD symptoms just was like reading a story of my life.

About 4 years ago it was discovered i had low testosterone. They also gave me a prostate exam and the endocrinologist thought he felt something. I was then sent to a urologist who said everything was absolutely fine. But due to all this polava i never got put on testosterone replacement therapy thank god! Ive heard its like poison to KD sufferers.

I have all these muscle symptoms including atrophy in my right thigh. I can easily see its thinner on my outer thigh muscle. I have pains in my legs and forearms and tingling all over. To be honest its definitely some form of muscle disease and given the choice between KD, als, pls or sIBM where the end of the illness is pretty much the same for all of them, i would rather have KD as progression is slowest. The only sad part of having KD is i have two beautiful daughters who would definitely be carriers.

I just have 4 things i cant get my head around.

1) i was reading that muscle weakness is around 3% per year with KD. Now these last 6 months my muscle wastage and weakness has gone down much more than 1.5% so something isnt right. But thinking of one of the other muscle diseases, both mnd and sIBM are not supposed to cause any pain as they are not sensory problems but nerve problems so first problem is generally falling. Something i have not had in the slightest. And im getting sensory pains in both arms and legs.

2) i am having serious problems with my breathing which is not usually an early progressive sign. Not when i am having no other bulbar issues with swallowing or tongue atrophy.

3) the specialist who did my emg, who definitely tested the thigh muscle with wastage told me it was not mnd. Emg checks lmn function so if they were ok enough for him to say without doubt it wasnt mnd, would that rule out KD as that affects lower motor neurons too.

4) i have 4 older brothers who are not showing any signs of KD whatsoever. They are 53, 59, 64 and 66 years of age. I know it could be that i am just the unlucky one who happens to be the youngest. I also have never heard of anyone in my mums side of the family with it. (My grandfather died quite young in the war so no idea if he had it but he did manage to have 4 children before then.) My grandmother died in her 60's. They had 2 sons and 2 daughters. Again it could be unlucky that my mum was the only carrier if her mum was a carrier. Mums other siblings died very late in life and none had any problems. Im not close to mums side but am not aware of anyone else with it.

Reading everything about how you have changed your life to cope with KD fills me with hope. As im still fairly early in the progression i think (if 48 can be classed as early) i still have no problems walking etc. However, i do think im now symtomatic and need to make the changed very soon. So i would love to speak more about how you have gone about this and make changes to my life too.
Location: San Luis Obispo CA
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I didn't see mention in your posts about getting the SBMA genetic test. Is that in progress?


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email:rheitzman at gmail
Registered: 01-11-2019
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I see my rheumatologist on the 22nd January. I will ask them to arrange the test then. Its the nhs so they will pay but i will have to get a doctor to authorise it.
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
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Your rate of decline sounds compatible with KD. Some estimate the average loss of muscle around 2%, some higher. But nobody loses muscle at an average rate as many ever changing things speed it up and slow it down. Physical performance depends on factors beyond muscle mass and is always in flux.

But from combined odds of low probability factors, my guess is you don't have KD and your symptoms are due to low testosterone plus other things.

Low CK is unusual.

Lack of bulbar symptoms is unusual for KD. Other than laryngeal spasms, breathing issues are largely unrelated to bulbar symptoms but are increasingly common as weakness progresses.

Significant weakness without indications of MND in an EMG sounds highly unusual but if your neurologist ordered a genetic test the result clearly wasn't sufficient to rule out KD.

Family history can't rule out KD. There is a miniscule chance of it arising spontaneously and some chance of inheriting it from a line of female carriers with no other unlucky male offspring.

Low testosterone weakly suggests not KD. Low testosterone is reported for some with KD but I think statistically there is bias towards high testosterone and a hypothesis that androgen insensitivity produced by mutant AR weakens a testosterone suppression feedback mechanism. BUT maybe you have KD plus some other thing suppressing testosterone and low testosterone limits CK, MND and bulbar symptoms while aggravating androgen insensitivity symptoms?

> Reading everything about how you have changed your life to cope with KD fills me with hope.

Remain hopeful whatever your diagnosis: "Genes load the gun, environment pulls the trigger."

My testosterone has always measured well above the reference range and I developed bulbar signs in my early teens. I think it was problematic when my hormonal & metabolic profile weren't good for neuromuscular health or neutralizing and clearing mutant AR : high stress, sleep disruption, triglycerides, insulin insenitivity/insulin/blood sugar swings, cortisol, inflammation, etc. and low GH/IGF-1, BDNF, sirtuin activity, autophagy, HSPs, glucagon/PACAP, etc. Having addressed the above issues I expect high testosterone is now helping counter androgen insensitivity and supporting muscle growth, fat loss and an improving metabolic profile.

This message has been edited. Last edited by: ToddAllen,
Picture of ToddAllen
Location: Chicago, IL
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quote:
I see my rheumatologist on the 22nd January. I will ask them to arrange the test then. Its the nhs so they will pay but i will have to get a doctor to authorise it.


Being able to completely rule out KD before deciding on testosterone therapy is a good argument for doing what should by now be a quick inexpensive test.
Registered: 01-11-2019
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Thanks for replying guys.

I hope your are right Todd. Yes mine was 200 around 5 months ago. I think i will get it retested now im getting the thigh aches. Along with a few other things.

Yes the specialist doing the EMG and nerve test told me it definitely was not MND, but i agree it wasnt a thorough test.
He only did my right side and just did the ankle area, thigh, forearm and i think shoulder but i may be wrong with that last bit. I was very nervous so my memory is a little shaky. For the nerve test he messed around measuring points in my ankle area and realigning the probes before shooting the shock up my leg. He also did some nerve tests around my hands and i remember him putting this ring on different fingers and shooting the test up my arms. The emg was silent when i was still and not moving but went bat sh*t crazy when i moved my leg and arm.

Agreed Todd, im staying well away from testosterone therapy until i know what i have. If its KD im never having it. Ive heard its like poison.

When i say i havent any bulbar symptoms. I do have this feeling i cant swallow saliva but im absolutely fine eating food or drinking. Never any choking episodes or anything. My gp said it was globus or silent reflux and ive also had a couple of gastroscopies and a camera up my nose and down my throat and nothing was seen.
Ive checked for tongue for
fiscallations and tremors and my tongue seems ok. My tongue is not perfectly smooth around the edges but doesnt look like atrophy. I reckon its when its sat on my teeth all day as my tongues edges touches my lower teeth. No problems chewing or anything like that.

My breathing is a wierd one. Ive had it a fair few years now but lately i seem to be struggling a little more. Ive had quite a few chest xrays and spirometry tests but nothing shows. (Spirometry always reveals terrible lung capacity). I have a large hiatus hernia, would that affect it. Ive also put on quite a bit of weight in my midriff so maybe that may affect my breathing too. (It definitely affects it when im bent over, i cant hardly breathe at all)

I was wondering if i had asthma but i dont get any wheezing when im breathing. It is definitely worse after any exercise though, i just cant get enough air into the lungs.

This message has been edited. Last edited by: Shepster48,
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
Posts: 173
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quote:
Yes the specialist doing the EMG and nerve test told me it definitely was not MND.

Agreed Todd, im staying well away from testosterone therapy until i know what i have. If its KD im never having it. Ive heard its like poison.


Technically KD is a motor neuron disorder and not a motor neuron disease like ALS but I'd be surprised if EMG results can definitively rule out MNDiseases without also ruling out MNDisorders. But if KD with low testosterone kept the impact on neurons low perhaps the technician was making his judgement on the degree of neural impairment being too little to cause the degree of muscle impact. Which could still fit in with KD. There is increasing evidence in KD that neural damage is secondary to muscle damage. And in your case muscle atrophy could have an additional non-KD driven cause, for example, elevated cortisol is an antagonist of testosterone and also promotes the breakdown of muscle protein to provide substrate for gluconeogenesis.

Increasing and decreasing testosterone is a bit of a mixed bag. Both have been tried. I think testosterone injections sometimes showed slight short term benefit but are largely bad news longer term while blocking testosterone is the opposite. Castrating male mice with KD I think resulted in flabby emasculated mice but prevented the degenerative aspects of KD. In people with KD as far as I know only the partial reversible chemical castration option has been tried.
Registered: 01-11-2019
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Hi Todd

Thats the thing. I literally have just about every symptom of KD. All the normal muscle problems, hand tremors, all the endocrinological symptoms, even fatty liver. After our previous communication, i think i may have reactive hypoglycemia and possible metabolic syndrome. I seem to be around the average age of symtomatic onset and average muscle weakness. So i think you may be on to something regarding my questionable emg. I guess i will find out next week what the results show.
I must admit, when i read about Kennedys i thought to myself that surely if my emg specialist said it was not MND that it must surely mean that i cant have any other disease that affects the lower motor neurons.

I definitely think i have a number of things wrong with me, rather than one. whether they are life limiting like KD or can be controlled by other means i have no idea. From what you have said the breathing issue is probably seperate.

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Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
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All the normal muscle problems, hand tremors, all the endocrinological symptoms, even fatty liver. After our previous communication, i think i may have reactive hypoglycemia and possible metabolic syndrome.


Fatty liver and metabolic syndrome aren't symptoms of KD but common comorbidities correlated to age of onset and rate of progression. There's nothing special there, metabolic syndrome and especially the advanced metabolic derangement of type 2 diabetes is correlated with most diseases of aging especially degenerations of nerves and muscle. Alzheimer's by far the largest and fastest growing neurodegenerative disease has been nicknamed type 3 diabetes. Parkinson's, the most common neurological motor disease (but not a motor neuron disease as brain neurons are primarily affected) is also comorbid with other metabolic issues. Parkinson's like ALS has many causes and it has highly variable expression. Some 20% of people diagnosed with Parkinson's are found on autopsy to not even have alpha-synuclein protein accumulations in their brain which is largely accepted as the definitive feature of Parkinson's. The number of people with some unknown non-Parkinson's but Parkinson's like disease is much larger than those with KD.
Registered: 01-11-2019
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Hi Todd

Parkinsons and alzheimers runs in both sides of my family. My paternal grandmother had alzheimers as did my mum. My eldest brother has Parkinsons with a form of dementia.

I have no idea if KD runs in my family. Other than my brothers i am not close to cousins and all my aunts and uncles are now dead. But as far as im aware no-one has had it.

Ive sent for my blood gloucose kit. It comes with 50 strips and lancets. Whether i have KD or not i intend to change whats happening with my blood sugar. Im sick of the fainting feeling every day.

Ive also made an appointment with my gp. Im going to have a full blood count, liver, kidney enzymes and current ck level and would like to know my b12 and vitamin d levels.

I'll get the rheumatologist to do the cag genetic test depending what the results are on the 22nd January.
Registered: 01-11-2019
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Just been doing my now regular examination of my muscles in my legs. I can now really see the difference in my outer thigh muscle of my right leg vs my left leg. The right leg now has definitely more wastage than the left leg. Left is 2cm thicker in circumference . Im also seeing each of the 3 or 4 thigh muscles very clearly on the right rather than a fuller thicker leg on the left. Strange it’s my dominant leg too. I’m getting lots of pains in both thighs but the right is definitely thinner. this has all happened in 6 months so I think my progression has stepped up a gear.

I don’t get how I can have a ck level of 200 and see this amount of wastage.

At least I know the specialist who did the emg did that exact muscle. I’m pretty nervous what the report will say at my appointment now. I have a bad feeling he spotted the atrophy on the test and is why he asked me if i had suffeed for sciatic nerve problems as i believe that can cause it. The. Problem is i havent.

Can KD really ramp up to lose an amount of muscle wastage that is easily viewable in 6 months. ( unless it was silently wasti g away and i didnt notice due to no weakness or pain)

The other thing I remember is when I had the emg, the emg machine was silent u til i moved my leg then crazzy noises.

I have just about every symptom of KD, but my progression lately seems quite steep for a slow progressing disease.

Im wondering if its more likely to be something like sIBM instead. The progression is much quicker with sIBM However, general symptoms of sIBM are that its painless and is mainly about weakness and atrophy where i certainly have muscle ache in all quad muscles. I also have bad knee pain too.

I am a bit of a quandry with this. On one hand i have just about every symptom for KD. Literally all muscle symptoms, years of testicular problems inc gynecomastia, ed, low libido, testicular atrophy, even my sperm looks different. I also have blood glucose issues which seem to point to insulin resistance and metabolic syndrome. I also get the normal aching and pain that usually comes with KD.

But on the other hand i have the specialist saying its not mnd (which in turn also excludes anything that affects lower motor neurons such as KD) and quite fast progression of muscle wastage.

I wonder if i actually have 4 different illness's going on. 1 affecting my muscles and weakness, 2 something like low testisterone causing hormonal problems with genitals. 3. Affecting my blood glucose levels. 4. Something affecting my breathing.

This message has been edited. Last edited by: Shepster48,
Picture of ToddAllen
Location: Chicago, IL
Registered: 01-18-2008
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My atrophy was very uneven. I am right handed and it was worse in my right arm and right leg than on the left. But curiously much worse in my left hand and left foot. Face is also a little lopsided. Getting back in balance has been a goal and I've made very good progress in my arms and fair progress in my legs and feet. I think too many nerves and muscle fibers died in my left hand and it will forever look deformed but the thumb and closest finger have recovered a lot of strength so the hand has become quite useful again.
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