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Hypermobile joints are a feature of genetic connective tissue disorders such as hypermobility spectrum disorder or Ehlers–Danlos syndrome (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3.
In 2018, the Ehlers–Danlos Society began the Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study. [22] The ongoing study has screened over 1,000 people who have been diagnosed with hEDS by the 2017 criteria to evaluate their genome for a common mutation.
Hypermobility spectrum disorder does not include people with asymptomatic hypermobility or people with double-jointedness but no other symptoms. Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [6] HSD is further classified into different subtypes, which include: [6]
The constellation of symptoms caused by craniocervical instability is known as "cervico-medullary syndrome" [4] and includes: [5] [6] [7] Anxiety disorder; Bobble-head doll syndrome, a sensation that the skull may fall off the cervical spine; Clumsiness and motor delay; Cognitive and memory decline; Double or blurred vision; Dysphagia, or the ...
They can vary depending on location of the joint. Genetic factors and underlying medical conditions can further increase risk. Genetic conditions, such as hypermobility syndrome and Ehlers-Danlos Syndrome put individuals at increased risk for dislocations. [11] Hypermobility syndrome is an inherited disorder that affects the ligaments around ...
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 ...
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 ...
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.