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What is ehlers danlos syndrome?


What is ehlers danlos syndrome?

Ehlers-Danlos syndromes is a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.

The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are categorized according to the form of genetic transmission into different types with many features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that form an inherited frailty of collagen (the normal protein "glue" of our tissues).

In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally plays a role in binding together the cells of our tissues (including the skin, tendons, muscle, and blood vessels). Abnormalities in this protein, called tenascin, also lead to a form of Ehlers-Danlos syndrome. Researchers suspect that tenascin could play a role in regulating the normal distribution of collagen in the connective tissues of the body.

The diagnosis of Ehlers-Danlos syndromes is based upon the clinical findings of the patient and the family history. For some types of Ehlers-Danlos syndrome a skin biopsy to determine the chemical makeup of the connective tissue can help to suggest the diagnosis.

Its a genetic disease that effects your connective tissues. It normally means that the person has hypermobile joints. Its quite usefull as a child as you can bend your fingers right back and do great part ticks.

Unfortunately it also means that you are more predisposed to other things folding back, such as your mitral valve in your heart. If you google it there is lots of information out there.

Never heard of it

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