My father has recently been tested (and is positive)for KD. I am going through some bioidentical hormone replacement for menopause and have had some incredible results. Have there been any studies on the hormonal balance of KD men? I know testosterone has been shown to have negative effects....any other possiblities in this area? Seems logical since the onset is somewhat linked to the time in a man's life when his hormones are declining/changing? I'm new to all this - so any information/research areas would be beneficial. KH

KH, I am not aware of any hormone studies, but I will check with one of our research doctors to see what he has to say.

As you probably know, KD is the result of a defective gene (X-Chromosome) and not an imbalance or deficiency; and symptoms can begin to show up anytime between the ages of 18 and 60+ with the mean age group in the 30's.

Dr. Paul Taylor's team has been studying the way in which neurons rid themselves of toxic proteins like mutant androgen receptor (cleaning the gummed up Androgen Receptor). [Below is part of his transcripts from a Chat this fall] The mutant androgen receptor aggregates into clumps and becomes toxic to motor neurons. In KD, these motor neurons start to fail some time after puberty when the testosterone levels go up. Some researchers believe that these motor neurons survive for a long time, many years likely, but fail to function probably. As a consequence, the muscles downstream from the neurons begin to weaken.

Some people believe that the long process is clogged like a highway with traffic and the signal can't get down. Others believe that the central headquarters, the nucleus which is back in the spinal cord, is gummed up, so that no good signals are sent. In either case, the motor neuron isn't functioning properly, but isn't dead. We think that if the motor neuron isn't dead, there is hope that it can be restored.

Unlike what we used to think 5-10 years ago, we don't think that KD exclusively affects motor neurons. We now know that there is a lesser affect on some sensory neurons. Since weakness is the biggest problem, the sensory loss kind of gets drowned out. But, some folks have a real problem with it.

Dr. Paul Taylor of the University of Pennsylvania provided the following information:

Bioidentical hormone relacement is a strategy for countering the effects of female menopause with synthetic hormones that are identical to natural hormones (as opposed to synthetic hormones that are similar, but slightly modified
versions of human hormones). My understanding is that they work quite well for that purpose. In KD there does not appear to be a deficiency in hormone so much as a partial defect in the hormone receptor - essentially a hormone resistance. Unfortunately, hormone treatment to overcome this resistance may be harmful by
accelerating the progression of KD. One thing KH said is incorrect: onset of KD symptoms is not linked to declining hormones. On the contary, the onset of KD is typicaly in younger men. KD begins after puberty with the attendent increase
in androgens as an insidious subclinical syndrome that likely progresses very slowly for years before the first physical manifestations of weakness are noticed (typically in the 30s or 40s).