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EhlersDanlos Syndrome

rms and shins. Complications of joint hypemobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints are evident. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well. Reoccurring joint dislocations are common, and joints such as shoulder, patella, and temporomandibular joint dislocate frequently. Chronic joint and limb pain is a common amongst individuals with Hypermobile type EDS. Skeletal X-ray are normal, however the anatomical distribution is wide and tender points can sometimes be elicited. To this day, researchers have not identified any biochemical collagen finding. The Hypermobile type of EDS is inherited in an autosomal dominant manner. The other four types of EDS that exist are less common, but have the same general symptoms as Classical and Hypermobile types (e.g. skin hyperextensible and the joint hypermobility). However, these types EDS have symptoms that occur in other regions of the body, including the general symptoms. Different protein and enzyme (collagen) disorder cause these other types of EDS. These other types are inherited in an autosomal dominant manner and autosomal recessive manner. There are other types which are very rare, and the molecular basis of which remains unknown, however they do know that these rarities are X-linked (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).The diagnosis of EDS is made upon clinical ground first, skin hyperelasticity, easy bruising, dystrophic scarring, and joint hypermobility are the cardinal symptoms, which may be present...

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