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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 ...
The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome 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 ]
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.
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."
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.
Studies have confirmed a link between hereditary connective tissue disorders such as Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) with autism, as a comorbidity and a co-occurrence within the same families.
Neuromuscular disease can be caused by autoimmune disorders, [1] genetic/hereditary disorders [2] and some forms of the collagen disorder Ehlers–Danlos syndrome, [12] exposure to environmental chemicals and poisoning which includes heavy metal poisoning. [3]
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 ]