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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 joint hypermobility, a common symptom for hEDS is smooth, velvety, and stretchy skin; a symptom largely unique to the syndrome. When diagnosing hEDS, the Beighton Criteria are ...
The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. [1] [9] Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. [1]
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.
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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 ...
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The Ehlers–Danlos Society is an international nonprofit organization dedicated to patient support, scientific research, advocacy, and increasing awareness for the Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). [1] The society has organized multiple events around the world in an attempt to raise awareness for EDS ...
2 comments. 2 Hypermobile Ehlers-Danlos Syndrome. 1 comment. Toggle the table of contents. Talk: Classification of Ehlers–Danlos syndrome. Add languages.