Tuesday, October 12, 2010

Ehlers-Danlos Syndrome

There is a geneticist dictator in my account, whose dictation is clear, but still it is one of the last files to leave the pool, may be because of the load of information it contains.  From a line count productivity point of view, taking one such file would upset the rate of productivity, but still if one is on the lookout for new terms and diseases, this is the dictator to do.

Today while doing such a file, I came across the term Ehlers-Danlos Syndrome (EDS).  EDS is a group of inherited connective tissue disorder caused by defect in the production of collagen.  Simply put, the collagen helps to decrease elasticity in skin, muscle ligaments etc., but in this case, due to abnormal production of collagen, elasticity increases and causes a person with this condition to have hypermobility and hyperextension.  EDS most typically affects the joints, skins, and blood vessels.

Depending upon individual mutation, condition can be mild to life threatening.  There is no cure and treatment is supportive care.  

I guess Stan Lee keeps a tab on all the happenings in the genetics field....or how else could he create x-men, spider-man and the whole lot of other super heroes with genetic mutation, (although the life threatening/disease part is not highlighted there).

Info as usual was gleaned from my friend wiki and a couple of other sites which came up on top while googling.

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