Hi there,

I've been having a health issue for a while now and as I wait the prescribed six months to see how symptoms progress, I'm doing a bit of my own research into what seem like possibilities. SBMA has come up as a condition of interest to me, although it's not a perfect fit. I thought I'd share my experience with you and get your opinions on if KD is even something I should ask my neurologist about. I know you're not here to diagnose people or give medical advice, but your general thoughts on my story would be greatly appreciated.

I'm a 32-year-old male in relatively good health. I am and always have been a very thin, tall guy. I don't smoke and I drink socially. I love my coffee but not a drug user. My diet could be better, but it could be worse, too. During the winter, I began experiencing progressive clumsiness in my hands, dropping things like cups, keys and eating utensils with unusual frequency. I also developed a tremor in my hands and arms that was only really apparent when exerting those muscles. My hand would shake if I gripped something like a cup tightly. My arms would tremble when giving a firm hug, propping myself up on my elbows, etc. My fiancee suggested I see my doctor, just to be safe. The visit with my GP was unremarkable. She tossed out suggestions of stress and caffeine overuse as possible causes of the shakes. I quit coffee for a month at her request, though it quickly became apparent there was more going on here.

By late February, I noticed fatigue in my arms and especially legs. My legs would simply tire out very quickly when walking, and especially when climbing stairs. Likewise, my arms would get fatigued just doing something like brushing my teeth. By March, I also became aware that I was having trouble swallowing solids. There was a sensation that the food was simply not traveling from mouth to throat correctly. As these symptoms emerged, I returned to my doctor who immediately referred me to a neurologist. The initial exam was also unremarkable. My strength was clinically normal, as were my reflexes. MRI, EMG and NCS were all normal, as was a whole lot of routine blood work looking for various conditions. Two tests did show abnormalities. The first was the modified berrium swallow, which showed weakness in the posteriour tongue as well as slow epiglottus function and pooling of liquids in the back of my throat. The other test, a pulminary function test, showed mostly normal breathing muscle strength when sitting up, but slightly impaired strength lying down. I also noticed that all my muscles, from legs, trunk, arms to neck, seemed thin and lacking tone. I had lost some 20 pounds inexplicably over the past six months as well. At the present time, it's evident to me I've lost significant muscle tone everywhere, including my face, and I suspect the next EMG I get will confirm my suspicion of muscle atrophy -- it's the cause of it that is still a mystery.

After a few more follow-up visits with the neurologist, a speech therapist to give me swallowing strategies / nutrition advice, and finally a neuro-muscular specialist for a second opinion, I was basically told my symptoms don't match any textbook definition and time will be the real test of what's going on. I'm due to visit the specialist again in November. In the meantime, I'm left knowing something is very wrong but we have no idea. I also get fatigued very easily and need to rest frequently.

So, that's my story. As I look back though, I start to wonder if things I've been noticing for years might actually be related to what's been going on recently. As far back as 5 years ago, I began having episodes of shortness of breath. I also experienced frequent morning headaches and bouts of waking up suddenly from sleep gasping for air. About two or so years ago, I started noticing that the skin of my face and neck seemed to be losing its elasticity, especially my lips, the skin below my jaw, and the front of my neck. I remember thinking "geez - if it's this bad at 30 years old, what will I look like when I'm 60?" That problem has steadily increased, to where I have little control of my lips and can hardly whistle anymore. I'm experiencing some slurring in my speech, especially when tired, but it's subtle. My fingers have become stiffer, making things like typing, playing guitar and removing lids noticeably more difficult. About a year ago, I developed pain in the joints of my right thumb, as if I'd injured it, and that pain never went away to this day.

Anyhow, I'm sorry for the lengthy post, but do these things sound like KD to any of you? I don't know of any family history of muscular or neurological diseases. My dad recently told me about one of his brothers who "began developing somewhat like a woman as he hit his late teens," and ultimately started receiving some kind of testosterone treatments, and that struck me as odd. Otherwise, I can't think of any unusual family history that could be KD-like. I was initially concerned about something like ALS, but it really isn't matching that disease model, either. I would think by now I'd be more severely debilitated if it were ALS.

Thank you in advance for your perspective. If you think it's worth exploring, I could ask my neuro about the blood test for KD.

Take care

HI Bulbar,

First the disclaimer, I am not a physician, I am not a clinician, I am someone who has KD.

That said: Some the symptoms do sound KDish, some of your experiences do not. I expect you already know this otherwise you would not be on this forum. The only way to determine if you have KD is to have the genetic test. The question now is should you be tested? Some of the advantages of knowing for sure is that you know what you have (and it is not considered a lethal diagnosis), that you can prepare for the future and knowing may influence decisions with regard to having a family. On the negative side, it could affect health insurance, it could affect others in your family and there is no treatment. I would strongly urge you to speak to your neurologist (or GP) and talk to a genetic counselor (your doctor should be able to refer you) to help you make a knowledgeable decision on whether to take the test.

Ed

Thank you Ed. I may email my doc about this. Can't hurt to ask.