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Because no single gene has been identified as the sole cause of the most common type of EDS, hypermobile type, obtaining a diagnosis is often difficult. [113] The 2017 diagnostic criteria are as follows: Criterion 1: Generalized joint hypermobility, as measured by the Beighton score; Criterion 2: Minimum two of the following must be met:
Hypermobility can also be caused by connective tissue disorders, such as Ehlers–Danlos syndrome (EDS) and Marfan syndrome. Joint hypermobility is a common symptom for both. EDS has numerous sub-types; most include hypermobility in some degree. When hypermobility is the main symptom, then EDS/hypermobility type is likely.
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 ...
The EDS and HSD community have adopted the zebra because "sometimes when you hear hoofbeats, it really is a zebra." 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."
Genetic conditions, such as hypermobility syndrome and Ehlers-Danlos Syndrome put individuals at increased risk for dislocations. [13] Hypermobility syndrome is an inherited disorder that affects the ligaments around joints. [14] The loosened or stretched ligaments in the joint provide less stability and allow for the joint to dislocate more ...
Another common condition that often co-occurs with ME/CFS is hypermobile Ehlers–Danlos syndrome (EDS). [33]: 57 Unlike ME/CFS, EDS is present from birth. People with ME/CFS are more often hypermobile compared to the general population. [29]: 28–29 Sleep apnea may also co-occur with ME/CFS.
Generalized joint hypermobility and hypotonia are observed in ~75% and ~55% of cases, respectively, and are often associated with musculoskeletal pain and joint instability. Approximately half of individuals exhibit behavioral or psychiatric issues; the most common diagnosis is autism spectrum disorder. [3]
Bethlem myopathy may be diagnosed based on clinical examinations and laboratory tests may be recommended. Genetic testing for known pathological variants is preferred. In the case of a VUS, testing of dermal fibroblast culture is used for an accurate diagnosis. [6] Bethlem myopathy 1 is a rare disease, affecting about 1 in 200,000 people. [8]