Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the body's ability to make connective tissues. It is caused by the inability of the body to synthesize different collagen types or a defect in synthesis. Depending on the individual mutation, the severity of the disease can vary from extremely mild to life-threatening.
Typical symptoms are unstable, flexible joints including double-jointedness and tendency to dislocate, and elastic, fragile, soft skin that easily forms welts and scars. Other symptoms can include eye problems and nearsightedness. Bone deformations such as pectus excavatum (sunken chest) from extra-rapid bone growth may present early.
Six different variants of the disease are known. EDS type 3 is the most common variant, and is caused by the autosomal dominant mechanism. EDS type 4 is also an autosomal dominant defect in the type 3 collagen synthesis. EDS type 6 is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase.
Among the more serious symptoms can be mitral valve prolapse, which creates an increased risk for surgery and anaesthesia, as well as itself possibly leading to further, dangerous complications. It may be linked to chronic fatigue syndrome, fibromyalgia, and myalgic encephalomyelitis.
Other symptoms or complications can include fragile skin, bruising easily, early onset osteoarthritis (often severe), increased likelihood of organ membranes or arterial membranes rupturing, gum disease, and a long and varied list of things that degrade quality of life or threaten life.
There is no known cure.
Famous patients
Niccolò Paganini (1782-1840) may have had Ehlers-Danlos; he was able to use it symptoms to his advantage. With unmatched flexibility in the joints, he was able to play in the first three octaves without shifting. This also enabled him to play many of his own works, which contain incredibly difficult passages with tenths and elevenths.
External link
- Ehlers-Danlos National Foundation (http://www.ednf.org)