ok well i have is this: Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica[1]) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I, III, or V). The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. the types i have is: Kyphoscoliosis type 6 Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. Arthrochalasia types 7A & B Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips. Their joints are much looser than the Hypermobility Type. It could be considered 2+ times worse than the someone who has severe joint instability with the Hypermobility Type. Dermatosparaxis type 7C Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin. Vascular type 4 Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers–Danlos syndrome because blood vessels and organs are fragile and prone to tearing (rupture). Many patients with EDS type 4 express a characteristic facial appearance (large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen) with very easy bruising and propensity to develop ecchymoses. About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.
Posted on: Sun, 28 Jul 2013 17:03:32 +0000
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