Friday, March 6, 2009
Beware of the Nerf Sniper
Like everyone...or everyone should, we try to have a good time during the work day. Breaking up the screen-time behind the computer with a well timed distraction is a good thing. We have various ways of doing this, some of my co-workers enjoy agitating my hyperexplexia, (hey it's a real disorder google it). However, one of my favorite things is popping off rounds from my Nerf Maverick, my trusty office sidearm-always loaded and ready for action. So beware of flying foam on the mezzanine level at Smart Furniture...yea thats right Luke, I'm on record, I'm the sniper which would make you the snipee.
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Definition of Hyperexplexia
ReplyDeleteHyperexplexia: A genetic disorder in which ******babies *********have an exaggerated startle reflex (reaction). [I swear I did not add "babies"]
This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of hypertonia (stiffness), exaggerated startle response, strong brain-stem reflexes (especially head-retraction reflex) and, in some cases, epilepsy. The hypertonia (stiffness) was evident with flexion of limbs, disappeared during sleep and diminished over the first year of life. The startle reflex was sometimes accompanied by acute generalized hypertonia (sudden stiffness) causing the person to fall like a log to the ground. There were 29 affected males and females in 6 generations, indicating that the disorder is an autosomal (non-sexlinked) dominant trait.
A number of other families have since been found with this disease. Additional findings include a tendency to umbilical and inguinal hernias (presumably due to increased intraabdominal pressure) and congenital dislocation of the hip. The exaggerated startle response persists throughout life; startles can be elicited by lightly touching the person's nose, clapping or making other noises, or suddenly jolting the person's chair.
The gene responsible for this disease has been found on chromosome number 5. (It is in bands 5q33.2-q33.3 and is a mutation in the gene for the alpha-1 subunit of the glycine receptor).
Treatment is with medications. The neurologic features can usually be controlled with clonazepam (KLONOPIN). In some cases, phenobarbital, diazepam (VALIUM), and valproic acid (DEPAKOTE) have also been found useful.
Hyperexplexia is also called Kok disease, startle disease, exaggerated startle disease, hyperekplexia, and stiff baby syndrome.
FYI: to Summarize, because chromosome number 5 is defective, you have "Kok" disease.
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