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In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. [5] According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing.
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] Bethlem myopathy 2 is an ultra-rare disease, affecting less than 1 in 1,000,000 people. [9] The condition was described by J. Bethlem and G. K. van Wijngaarden in 1976. [10]
The Ehlers-Danlos Society listed these possible warning signs: loose, overly flexible or unstable joints. joint pain. soft, stretchy, fragile skin that tears or bruises easily. slow and poor wound ...
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation , [ 3 ] or tethered spinal cord syndrome .
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 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 ...
Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis.This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, and psychological issues emanating from anxiety about acceptance among ...
[20]: 602 Connective tissue disorders such as Loeys-Dietz syndrome, Marfan syndrome, and certain forms of Ehlers-Danlos syndrome are also associated with aneurysms. Aneurysms, dissections, and ruptures in individuals under 40 years of age are a major diagnostic criteria of the vascular form of Ehlers-Danlos syndrome (vEDS). [22]