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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.
Amplified musculoskeletal pain is a syndrome which is a set of characteristic symptoms and signs. Essentially, the syndrome is characterized by diffuse, ongoing, daily pain associated with relatively high levels of incapability and greater care-seeking behavior.
Ehlers–Danlos syndromes are estimated to occur in about one in 5,000 births worldwide. Initially, prevalence estimates ranged from one in 250,000 to 500,000 people, but these were soon found to be low, as medical professionals became more adept at diagnosis.
Joint hypermobility is often correlated with hypermobile Ehlers–Danlos syndrome (hEDS, known also by EDS type III or Ehlers–Danlos syndrome hypermobility type (EDS-HT)). 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 ...
A number of conditions can feature dysautonomia, such as Parkinson's disease, multiple system atrophy, dementia with Lewy bodies, [6] Ehlers–Danlos syndromes, [7] autoimmune autonomic ganglionopathy and autonomic neuropathy, [8] HIV/AIDS, [9] mitochondrial cytopathy, [10] pure autonomic failure, autism, and postural orthostatic tachycardia ...
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 ...
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