Amyotrophic Lateral Sclerosis (ALS) Support Group
Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrig's disease, Maladie de Charcot or motor neurone disease) is a progressive, almost invariably fatal neurological disease. In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, ceasing to send messages to muscles. This community is for those afflicted with the disease or who know a...
I am still going through a series of tests and one they are checking for right now is Kennedy's Disease. I thought I would share this information as well for your review. It has the same symptoms as ALS though I believe this one is not a terminal disease. If you haven't been tested for this through DNA then it may be an option as well.
WHAT IS KENNEDY'S DISEASE
Kennedy's Disease Questions & Answers (PDF File)
Kennedy's Disease (also known as Spinal Bulbar Muscular Atrophy, SBMA, or Kennedy's Syndrome) is a rare and currently incurable and non-treatable X-linked recessive genetic progressive neuro-muscular disease. Both the spinal and bulbar neurons are affected causing muscle weakness and wasting (atrophy) throughout the body which is most noticeable in the extremities (legs/arms), it is especially noticeable in the face and throat, and causes speech and swallowing difficulties, major muscle cramps as well as other symptoms (please see "KD Symptoms" section of this Web site for more detail).
KD is an adult-onset disease with symptoms usually appearing between the ages of 30 and 50. However, earlier onsets have been recorded.
Generally males with this inherited gene develop symptoms, while females with this gene are usually just carriers. Although, in rare cases, females have been known to exhibit symptoms as well. Life expectancy is noted to be at or almost normal.
It is estimated that 1 in 40,000 individuals worldwide have Kennedy's Disease. However, many go misdiagnosed or not diagnosed for years. The number one misdiagnosis is Lou Gehrig's Disease (ALS) a fatal disease.
What causes the symptoms that are associated with KD:
Motor neurons are long nerve cells that extend from your spinal cord to your muscles. These nerve cells fire to make your muscles contract. In KD (Kennedy's Disease) the nerve cells become dysfunctional and eventually die, leaving the muscle unable to contract
The androgen receptor is a protein that lives inside the nerve cell. Lots of cells have the androgen receptor protein, but motor neurons have more than most. The androgen receptor sits around waiting for testosterone to come and bind to it. The binding of testosterone to androgen receptor somehow kicks off the disease. Since men have much higher levels of testosterone, they are affected by the disease.
WHAT IS KENNEDY'S DISEASE
Kennedy's Disease Questions & Answers (PDF File)
Kennedy's Disease (also known as Spinal Bulbar Muscular Atrophy, SBMA, or Kennedy's Syndrome) is a rare and currently incurable and non-treatable X-linked recessive genetic progressive neuro-muscular disease. Both the spinal and bulbar neurons are affected causing muscle weakness and wasting (atrophy) throughout the body which is most noticeable in the extremities (legs/arms), it is especially noticeable in the face and throat, and causes speech and swallowing difficulties, major muscle cramps as well as other symptoms (please see "KD Symptoms" section of this Web site for more detail).
KD is an adult-onset disease with symptoms usually appearing between the ages of 30 and 50. However, earlier onsets have been recorded.
Generally males with this inherited gene develop symptoms, while females with this gene are usually just carriers. Although, in rare cases, females have been known to exhibit symptoms as well. Life expectancy is noted to be at or almost normal.
It is estimated that 1 in 40,000 individuals worldwide have Kennedy's Disease. However, many go misdiagnosed or not diagnosed for years. The number one misdiagnosis is Lou Gehrig's Disease (ALS) a fatal disease.
What causes the symptoms that are associated with KD:
Motor neurons are long nerve cells that extend from your spinal cord to your muscles. These nerve cells fire to make your muscles contract. In KD (Kennedy's Disease) the nerve cells become dysfunctional and eventually die, leaving the muscle unable to contract
The androgen receptor is a protein that lives inside the nerve cell. Lots of cells have the androgen receptor protein, but motor neurons have more than most. The androgen receptor sits around waiting for testosterone to come and bind to it. The binding of testosterone to androgen receptor somehow kicks off the disease. Since men have much higher levels of testosterone, they are affected by the disease.
beachbarb
Had researched this disease on your behalf about one week ago. Since you responded fairly quickly with the baclofen, which is absorbed in the spinal canal, I thought this may be the appropriate diagnosis. Has any female in your family line had it? It would be carried on the botttom part of the X chromosome, but your Y chromosome would not have a counter gene.
deleted_user
There is no information available of any females that have been diagnosed with this in my family. My doctor kept asking over and over about ALS diagnosis or other genetic diseases with my family. There simply isn't any data available. She is only 90% sure of ALS, and the DNA test I'm completing will certainly give the results. I think I am about down to the last few tests before we reach a diagnosis. I'm still waiting on my advanced blood panel for Lyme Disease as well. This is an extremely long shot. It doesn't matter to me at this point I'm doing everything possible to win this battle...no matter what it's titled!
2DanceAgain
I am hoping by replying, I will bring this post to the top of the list. This is important information because my husband originally was misdiagnosed as having ALS. After a second opinion he was diagnosed as having Kennedy's Disease which was confirmed with a genetic blood test. For us it was good news because the progression of Kennedy's Disease is much slower than ALS. I am looking for other caregivers of men with Kennedy's Disease. I need the support of talking to others. I have my own chronic illness and being a caregiver of someone with a progressive degenerative disease is going to be a challenge.
myla1964
Hi my name is Luis I am 55 yrs my wife and I live in California and I Have Kennedy’s disease I understand You about no support groups. We live in the Sacramento Area and there is no support groups in our area So we depend on each other for our support.
Evans01
I have confirmed ALS with two opinions but I still feel like it could be Kennedy's or something like that....any experiences or opinion on whether it makes sense to try for a third opinion?
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