Location: Lewis Center OH
Bruce, much thanks for the reply... I am doing pretty ok. I am now 66 and I think general age is showing more than specific KD symptoms. I notice only some bulbar weakness - strength around the neck and in chewing. More worrisome the peripheral neuropathy seems to continue progressing. I have not spent as much time following KD related. Moved back to the US in 2009 but still consulting. Hope to catch up some time.
Dan, Dr. Fischbeck responded to the question you raised last fall.
"Sorry for the slow response. I misplaced this message got lost in the aftermath of the government shutdown last fall.
I think Dan Wolfe’s point is well taken. It is best to reserve the term “spinal muscular atrophy” (SMA) for a specific autosomal recessive motor neuron disease caused by SMN1 mutations. It is quite different from KD in that it generally affects infants and children. Unfortunately, the term SMA is often used by clinicians more broadly to include other disorders with lower motor neuron involvement.
I agree that it is better to be specific. I, too, will contact the people here at the NINDS Office of Communications and Public Liaison about it."
Location: Lewis Center OH
Bruce, thanks for the feedback and good to hear that Dr K. Fischbeck concurs. Not hearing back on this I sent a letter through the front door of NIH/NINDS and got a short curt letter from a staffer basically saying they will consider my comments. I think this is indicative of a broader problem... i.e., non experts publishing incorrect or mis-information on the web that becomes referred and quoted, requoted and requoted again, etc. becoming wiki-style universal truths. Take for e.g., the "spinal bulbar muscular atrophy" entry on wikipedia. I saw this and did a double take at the article. You know … as a wiki article sounds pretty good unless you really understand the topic and then find a lot of areas where it is really not quite correct. Also looking at the history, I see both you (May 2011 and Jul 2006) and Dr. Fischbeck (Jan 2008) provided comments/changes to the author ... not sure whether he accepted them. The article begins in the 1st sentence referring to SBMA by the acronym of SMAX1. I can say that none of the published papers research and clinical studies on SBMA use the acroynym SMAX1 (although you might be familiar with the term). SMAX1 is referenced in some of the databases the author notes - such as The National Center for Health Statistics (NCHS) International Statistical Classification of Diseases ...ICD-10/ICD-9 for morbidity purposes. and OMIM - Mendelian Inheritance in Man (OMIM) database of known diseases with genetic component... but tracing back it is not really used for SBMA. The Wiki author link http://en.wikipedia.org/wiki/User:Ekem is I suppose typical of Wiki authors - his contributions range far and wide e.g., Arts & Literature, Biochemistry/Physiology, Companies,
Geography, History, Medicine, People, Philately, Railways, things nautical ... i.e., knows everything but not an expert at anything. There are many 'improvements' I could make off the top of my head but it is a headache and time consuming doing the back and forth debating with wiki authors types. With all the review articles done over the last 10 years simply lifting from one or two would be a great improvement... I might have a go at it, what do you think? As said this is a bigger problem than just SBMA - but on the how the web is having a distorting diluting effect on what is real knowledge.
Dan, yes, I tried to make a bunch of changes to the Wiki page. But, the author has to approve them. Yes, if you have the time, let them know of the changes you think needs to be changed. At some point, they might accept them.
Kennedy's Disease Association
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