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No cure for Ehlers–Danlos syndrome is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help stabilize the joints and prevent injury.
In particular, musculoskeletal involvement is a requirement for diagnosis with any form of hypermobility spectrum disorder but not for hypermobile Ehlers–Danlos syndrome. Like hypermobile Ehlers–Danlos syndrome, hypermobility spectrum disorders are associated with orthostatic tachycardia, gastrointestinal disorders, and pelvic and bladder ...
Joint hypermobility is often correlated with hypermobile Ehlers–Danlos syndrome (hEDS, known also by EDS type III or Ehlers–Danlos syndrome hypermobility type (EDS-HT)). Ehlers–Danlos syndrome is a genetic disorder caused by mutations or hereditary genes, but the genetic defect that produced hEDS is largely unknown. In conjunction with ...
What is Ehlers-Danlos syndrome? It’s actually a group of 13 related disorders caused by different genetic defects in collagen, an essential building block, according to the National Organization ...
Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
The Ehlers–Danlos Society is aiming "towards a time when a medical professional immediately recognizes someone with an Ehlers–Danlos syndrome or hypermobility spectrum disorder." [9] Hypermobility is one of the main symptoms of hypermobility spectrum disorders (including some types of Ehlers–Danlos Syndrome)
These include osteogenesis imperfecta, [63] Multicentric carpotarsal osteolysis syndrome, [69] Multicentric Osteolysis, Nodulosis, and Arthropathy, [70] Marfan syndrome, [63] hemochromatosis, [4] hypophosphatasia [71] (for which it is often misdiagnosed), [72] glycogen storage diseases, homocystinuria, [63] Ehlers–Danlos syndrome, [63 ...
Henri-Alexandre Danlos (/ ˈ d æ n l ɒ s /, French pronunciation: [ɑ̃ʁi alɛksɑ̃dʁ(ə) dɑ̃los]; 26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers (1863-1937), the Ehlers–Danlos syndromes , which comprise a group of inherited connective-tissue ...