Tuesday, February 28, 2012

Two Important Kennedy’s Disease Studies Revisited

Back in 2010 I wrote articles on two important Kennedy’s Disease studies. For my newer readers, these two studies are still important reads to help understand Kennedy’s Disease and its effect on anyone with the mutated gene.

The Natural History of Kennedy’s Disease

Natural HistoryI believe this is one of the most complete studies on what happens when it happens to a patient with Kennedy’s Disease. I summarized the report in my original article:

"Fortunately, this study is well written … meaning I could understand it.  This is the only study that I am aware of that focuses in on what happens and when does it occur.  It is based upon data provided for up to twenty years of a patient’s life.  This study is different than most, because of the number of patients.  So often the patient base is substantially smaller.  I would recommend reading the article if you want to learn more about the onset and progression of Kennedy’s Disease.  Little time is given to the cause of Kennedy’s Disease or current research if that is your interest."

Below are the links to my articles on this report:

The key findings in this study were:

  1. The greater the size of the CAG-repeat expansion (CAG count), the earlier the onset.  The study used nine ADL’s (activities of daily living*) for milestones in this study
  2. The rate of disease progression was not dependent upon the number of CAG-repeats. 
  3. The researchers commented that the most striking observation was that the CAG-repeat length did not affect the interval periods between the individual ADL milestones.  In other words, the progression of the disease is not influenced by the CAG count. 
  4. The most common cause of death was pneumonia due to aspiration and dysphagia.  Even though these two bulbar symptoms were relatively mild when first manifested, they were serious issues in the later phases of the disease. 
  5. Creatine kinase (CK) averaged 863 in these patients with a range from 31 to 4955. The normal range for CK is 45 to 245.
  6. Serum testosterone levels were relatively high even with older patients, although the levels did decrease with age.

Clinical Features of Spinal and Bulbar Muscular Atrophy

clinical historyThe other recent study goes in a somewhat different direction, but is also very helpful in understanding the disease. I summarized the report in my original article:

“In October of last year, a paper was published on the findings of 57 patients with Kennedy's Disease here in the United States. It is somewhat different in scope than the "Natural History of SBMA" report I discussed in May. The information provided in this report was obtained during the last NIH clinical trial. The title of this report is "Clinical Features of Spinal and Bulbar Muscular Atrophy." In today's article I will highlight certain findings that I found interesting. I would recommend that if you are interested, please follow the link above and read the entire paper.”

Below is the link to my article on this report:

"This report concluded that the longer the CAG repeat length (number), the earlier the onset. It also commented that the longer the CAG repeat length, the greater the abnormalities in motor and sensory nerve conduction. 94-to-100% of the patients had some sensory problems. They reported that there was a significant difference in the MUNE (motor unit number estimation) between SBMA subjects and the control (healthy) group. This sensory nerve issue (nerve conduction) has been one that has bothered many of us with Kennedy's Disease for some time. The tingling or numbness in the feet, hands or other parts of the body has been frustrating, because it had not been reported as a symptom until recently."

If you haven’t visited these articles or read the actual reports, I would recommend that you take the time to do so.

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