Hi

I hope it’s ok to post with no confirmed diagnosis. I’m 48, worried and from the UK.

I have had muscle and joint problems for a few years now. Looking back I reckon it all started around 5 or 6 years ago. However, I only realised it was becoming a problem this year when I realised I was struggling to do normal things like raising from a chair. The tingling in my muscles is worrying me and I have some twitches in muscles after I’ve used them. I am also pretty sure I have muscle atrophy in my thighs but my wife isn’t so sure as I’ve always had thin legs.

I suffer from gynecomastia but put this down to taking amitriptyline as it can be a side effect. However, I have struggled with erectile disfunction too.

For the last few years I’ve felt like I wasn’t getting a full breath but chest xray and ct came back fine. I also feel I can’t swallow saliva but have never had any problems swallowing food.

Nothing has shown up on my bloods however my ck is 200 and my alt is 50, although it has been higher into the 70’s. I also have fatty liver which my gp reckons is why my alt is slightly elevated.

I have 4 biological brothers who are all older than me (53,59,64,66) and none have shown any symptoms of KD. My eldest brother has however just been diagnosed with Parkinson’s. I never knew my mums father as he was still young when he was killed in the war. My mum has also passed a few years ago from Alzheimer’s. I don’t really know my cousins so do not know if any of my aunt’s children have KD.

My mum was 38 when she had me, the last child. Does being older have any coloration with passing on the KD gene?

So around 5 months ago I noticed knee and thigh pain and general fatigue. I had an X-ray and no arthritis was seen. My forearms and hands also feel weak and tingle a lot. I get muscle fatigue in my forearms quite easily when using my hands.

I’ve had an mri on my thighs and recently had an emg and nerve test.

I was worried it was mnd but the specialist who conducted the emg and nerve test told me after the test it was not mnd/als. I have not had the full results yet from my neurologist, so I don’t know what they’ve found.

My question is, as the specialist who conducted the emg said it wasn’t mnd, does that mean it could still be Kennedy’s disease instead or would that also rule out KD?
I have read that sometimes KD is first misdiagnosed as als/mnd so wondered if it would show up on the emg/nerve study as the same meaning if MND is ruled out would KD also be ruled out? Would the specialist have seen motor neurone loss with KD also?

I am scared stiff what this could be. I have read it doesn’t affect the lifespan but I Am worried as I seem to be going downhill over the last few years. I am worried if it is KD that I will soon be in a wheelchair or bed bound and rely on my family. I don’t want to be a burden.

Does the fact that my 4 older brothers are not showing any signs of KD mean anything? I’ve heard there is a 50% chance so could it be my other brothers have been lucky and I was the unlucky one. I guess it’s like a flip of a coin.

I have a really bad feeling I have Kennedy’s disease. All my symptoms seem to fit. I guess I would need the dna test to confirm and find out how bad I have it.

I do worry that I’m already having problems getting a full breath and feeling of unable to swallow. Would that mean I’m quite far in progression. I had read it’s usually 2% muscle loss per year but I think I am getting weaker much faster than that.

Thanks for reading and your opinion is gratefully received.

This message has been edited. Last edited by: Shepster48,

I'll start with the disclaimer that I have no formal medical education or training and everything I "know" both right and wrong is through personal exploration/education mostly by the internet which is tremendously rich in both information and misinformation. Sorting it out is a never ending process.

While ALS is commonly thought of as a single disease nearly two dozen different causes have been identified so far. A significant percentage of those diagnosed with ALS don't match the known causes. I lean towards a view that each different cause is really a different disease although each cause ends up producing very similar damage, symptoms and end result with a few outliers such as Stephen Hawking.

Kennedy's disease shares much with ALS and ALS is the most common misdiagnosis for people who have Kennedy's. KD has a single cause which fortunately tends to be far less toxic to neurons than all forms of ALS with much slower progression and a somewhat different pattern of severity across varying tissue types and body regions.

What you have described sounds like KD to me. First symptoms of androgen insensitivity is a core feature of KD and your other symptoms, age of onset and apparent rate of progression sound typical for KD. ALS tends to be brutally fast, most are extremely disabled or dead within 6 years of noticing the first signs of fatigue or weakness. Your rate of progression suggests you don't have ALS. Considering we don't yet know all the causes of ALS I think it is impossible to rule out having it other then by monitoring rate of progression over time. And even that won't guarantee not getting it in the future even if genetic testing finds you definitively have KD.

I recently had genetic SNP testing through 23andme. Caught a sale and it was just $49 for a test that captures 90+% of my genetic characteristics although our knowledge to interpret those characteristics is still very incomplete though vastly more extensive than I expected. Turns out I have many risk factors for ALS, Parkinson's, Alzheimer's and many other diseases though none were extreme except for Crohn's disease which in hindsight I'm fairly certain I have, previously thought it was IBS. I am learning as much about risk factors under my control to avoid developing any of those diseases. Many risk factors are things likely to accelerate KD so it is a double win and the changes I've been making to address KD have lowered my risk of developing other diseases.

I went with the cheapest 23andme test, the ancestry package, which only gives a report on ancestry although it produces the same raw genetic data as the more expensive options. They let you download your gene file for free and I used another free service https://codegen.eu which also accepts genetic data from many other sources to explore my data. What I've learned is priceless. It confirms most all of my recent changes in diet, exercise and supplementation are very appropriate for my genes. Also learned I have a second significant muscle issue a homozygous mutation that completely knocks out an important muscle protein for which I've apparently stumbled on to managing appropriately.

But despite having SBMA, 50 repeats, and many other now identified genetic problems I've made lifestyle changes that have vastly improved my health and I've been gaining performance and fitness for nearly 3 years. This is possible because we can change how our genes are expressed. My genes worked pretty well for me when I was 18 and I've been shifting my gene expression back to a more youthful pattern or at least a somewhat less diseased/aged pattern. My most recent dexa scan finally shows I've regained the ability to gain muscle mass while losing fat despite it being challenging for most men of my age, 54, without KD. I've set a goal to become more athletic then average for my age without KD. I'm increasingly confident it is possible although it might take decades since I declined so far below average.

Regardless of what disease(s) you have do not lose hope. Things in your control have the power to make a difference. If not actually producing recovery one can change the trajectory of disease and slow or stop it. There are many examples to be found on the internet of people doing this for "untreatable" neurological diseases including ALS and sharing how they did it. Do everything you can to learn about your health issues and maximize your health. Note medications rarely produce health they reduce severe symptoms of poor health while often creating new issues of hopefully lesser severity. Useful if a particular symptom is causing rapid damage but shouldn't be used as a crutch to get by without effort to truly be healthy.