Kennedys Disease Community
Suspect I have KD, but some symptoms don't match...

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11-28-2020, 10:27 PM
Suspect I have KD, but some symptoms don't match...
I've been experiencing a myriad of neuro symptoms, which as you might expect, has prompted hours of google searches, peer-reviewed journal articles, and forum posts. KD appears to be the closest match for most of my symptoms which include, increased bilateral leg weakness, intermittent numbness/tingling, odd swallowing sensations, increased uncoordinated muscle movements, like awkwardly picking up objects, intention tremor, a significant increase in muscle spasms, fasciculations, especially in the tongue (constant), chin, jaw, neck, and face. An overall feeling of decreased strength/stamina, Ataxia, postural tremor, recent diagnosis of gynecomastia, very low testosterone levels for an otherwise healthy-ish 40-year-old, mild fatty liver.

However, there are some symptoms/presentations that don't seem to line up with a KD diagnosis. Just curios if anyone else in the forum can share their experience/insight. About the following:

The majority of my symptoms, especially the neuro-related ones have progressed fairly rapidly, over the course of three months. Some may have been present for over a year or more such as low testoerone/gynocomastia, intention tremor, decreased strength/stamina, but the spasms, fasciculations, numbness/tingling, leg weakness, ataxia, increased uncordinated muscle movements have really escalated in the last two months. Anyone else had a more rapid progression of neuro/muscle symptoms?

For the past year to 1.5 years I have been feeling this internal vibration/tremor. Like a tuning fork was struck on my insides. Turns out that's fairly common symptom for other neuro-muscular disorders like PD, MSA, MS. Haven't found any mention of this very unique symptom with KD. Anyone else experience this?

I notice my overall symptoms seem to be worse at night. I've read this is fairly common with PD and MS, but does this happen with KD?

Finally, one of the more concerning recent symptoms is a dramatic fluctuation of blood pressure and often heart rate, especially when changing position, from laying to sitting to standing, or your classic orthostatic hypotension. Seemingly this came out of nowhere. I'm generally around 130/80, but in the last month I've seen fluctuations in the span of minutes from 115/90 to 165/110, even as high as 205/115 (sent me to the emergency department). However, there doesn't seem to be as much concern by medical professionals as eventually my BP will lower to somewhere around 145/95 range. I've also noticed decreased saliva and sweat. These are fairly classic signs of some level of autonomic dysfunction often seen in other motor neuron diseases, but I haven't found anything associated with KD. Recently my BP has been improved, but still overall elevated. Anyone else have any autonomic abnormalities, like labile BP, heartrate, dry mouth, decreased sweating, or GI issues like gastroparesis or constipation?

Any feedback would be greatly appreciated. So glad I came across this forum. Very helpful. Forgot to mention it, but I have not been officially diagnosed with KD. I suspect it. I've had a head CT, MRI, lots of blood work, but apparently there are not enough neurologist out there and getting in to see one is challenging. I've read many horror stories about rare neurological disorders and time from symptom onset to correct diagnosis and want to not rely the "wait and see" approach.
11-28-2020, 11:32 PM
Bob Heitzman
If anyone up your mother's side of the family tree has similar problems that would be a strong pointer to KD. An "official" KD diagnosis would be a DNA test.

KD doesn't preclude other diseases, so you can't really tell much from the non-KD symptoms.

I recommend you get a good primary physician to help on the quest for a diagnosis. If that isn't possible keep all records yourself.

Do keep a log of what you do on your quest, with good contact info. Record serious symptom events details - make sure they get in the Doctor's chart.

If you have a good/secure relationship with your insurance company they likely have resources that can help. They can avoid a lot of costs from a random jump around the medical community.

Good luck!

email:rheitzman at gmail
11-28-2020, 11:54 PM
Thank you Bob for the feedback, I really appreciate it.
11-29-2020, 04:32 PM
Here's a Black Friday sale on whole genome sequencing for $149

A couple days ago I ordered the higher accuracy option for $239 although the lower cost version would be sufficient to see if one has KD or not. Until I receive my results I can't say how one might best go about using it to check for KD but one can download the raw data for their entire genome. This will include the CAG repeat sequence that causes KD but finding it in the very large data file could be challenging. There are a lot of options of services and tools to interpret genome data a few of which are free. I'm going to start with those and see how far that gets me. All of this is rapidly changing a few years ago the cheapest options for whole genome sequencing were many thousands of dollars.