Hello everyone,

Let me introduce myself, my name is Fernando, I have 23 years and living in Spain.

Currently I am still not diagnosed with Kennedy disease (I'm waiting for the results of genetic testing - CAG repeats) but everything seems to indicate that indeed, I suffer.

I had endocrine symptoms from 15 to now (I think it is not necessary to describe them too, all know) and is now at 23, after unsuccessful treatment against these undiagnosed symptoms then when I started to develop rapid-onset neurological symptoms. Especially notice much facial muscle weakness (in fact sometimes I have enough trouble finding the position on the pillow during sleep) and legs. However, I wanted to check something: have you had visual symptoms associated with gastrointestinal disease? I have not found much literature and are typical symptoms of MS than Kennedy, but perhaps you can say you me otherwise.

On the other hand, something that has accompanied these symptoms are cognitive issues, ie, until the onset of neurological symptoms was not present, I worked without problems in a job that required me mental lucidity and high speed, and also I have always been described as an intelligent and mature for her age (so they can always be subjective these evaluations), but now it seems as if everything had changed, my mental processing capacity is greatly reduced and sometimes I have trouble understand the contexts in everyday situations ... have you experienced these symptoms? Do they form part of the disease?.

Apologies for the poor wording of the text, the English have always been a pending issue for me and although I understand with little difficulty at the time of writing I prefer to use the translator, with the inconsistencies to which this leads.

Be aware of your comments today and the forum in general.

Thank you very much and a hug

Fernando

Fernando, since Kennedy's Disease is a lower motor neuron disease, cognitive issues are not normally present (not a symptom). Cognitive symptoms could be related to something else going on in your body.

If the DNA test does reflect Kennedy's Disease, I would still have your doctor investigate other potential causes for the cognitive issues.

Please keep us advised.

Thanks Bruce.

My neurologist told me the same thing, cognitive symptoms are not primarily associated with Kennedy. Attributed it to stress that are causing me the other symptoms, but I do not think I've had other periods of stress in my life with absolutely no compromise to my alertness.

By the way Bruce, congratulations on the blog that keep Kennedy's Disease,. I have come to read several times and I think the best I have found no doubt about it. Excellent work.

I will keep you informed of future developments, the test will be approximately within 2 weeks (here at least take approximately 1 month to perform molecular diagnostic testing of this type).

A hug,

Fer

Fernando, thank you for your kind comments. If I can make a difference in someone's life, it is worthwhile.

Hello everyone,

Finally, my case is not SBMA. My DNA test says I have a normal allele 17 CAG repeats in the exon1 of the androgen receptor.

It was a surprise to me. Since I have all the neurological symptoms of the disease (loss of muscle mass, gait, coordination ...). My analytical also SHBG, cholesterol, testosterone, estradiol ... high. However, it seems to be to keep looking. The DNA test can not be wrong.

In any case, again, Bruce, thank you very much for your answers. Would go through with this great blog for long. I continue reading.

Regards,

Fernando

Fernando, that is good news on one front. I hope the doctors can determine the cause of your health issues soon and that it is treatable.

Take care, Bruce

Here I have the similar situation: I was diagnosed as Lower Motor Neuron Disease in 2008, after DNA test, they told me I'm neither Kennedy Disease nor SMA, I'm feeling weak and muscle atrophy, but till now, don't know what my disease is.

Mike, yes, it is very frustrating to have a health issue that is difficult to diagnose. Many of us with KD were initially diagnosed with ALS. Fortunately the field of medicine is becoming better equipped to find the right diagnosis every year. I hope you will soon find someone that can correctly diagnose your health issue and treat it.

Hi Mike,

On Monday I will go to my neurologist and I imagine we'll continue working on the diagnosis. Each case is different and it is likely that your case and mine do not correspond to the same pathology. However, if there is a major breakthrough in this regard, I will update here if I can help.

Regards,

Thank you!

I have problem with chewing and swallowing, arms weak, still can walk well.

Good luck!