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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.
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.
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 ...
Henri-Alexandre Danlos (/ ˈ d æ n l ɒ s /, French pronunciation: [ɑ̃ʁi alɛksɑ̃dʁ(ə) dɑ̃los]; 26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers (1863-1937), the Ehlers–Danlos syndromes , which comprise a group of inherited connective-tissue ...
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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]