Ehlers-Danlos Syndrome: “It Hit Like a Tornado” скачать в хорошем качестве

Ehlers-Danlos Syndrome: “It Hit Like a Tornado”

Patricia Weltin of Beyond the Diagnosis talks about Elhers-Danlos syndrome, a rare disease that afflicts two of her daughters. Ehlers-Danlos syndrome is a group of connective tissue disorders. There are various forms of Ehlers-Danlos. According to the NIH, there are numerous types of Ehlers-Danlos syndrome had been described and to date, over 19 genes have been associated with this disease. Most of those genes (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ADAMTS2, FKBP14, PLOD1, and TNXB) are linked directly or indirectly to collagen production. A common symptom in most people with Ehlers-Danlos syndrome is an unusually large range of joint movement (hypermobility). While often viewed as an interesting school yard trick, the loose joints are unstable and prone to dislocation and chronic pain. Many people with the Ehlers-Danlos syndrome also have soft, velvety skin that is elastic and fragile. Organ damage and bone abnormalities can also be observed in these patients. As Weltin explains in this video, her daughters grew up relatively normal but as soon as puberty began, aches, pains, and joint dislocations became more commonplace.