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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.
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 ...
Ehlers–Danlos–like syndromes are hereditary in Himalayan cats, some domestic shorthair cats, [165] and certain breeds of cattle. [166] It is seen as a sporadic condition in domestic dogs, with higher frequency in English Springers. [167] It has a similar treatment and prognosis.
Edvard Ehlers. Edvard Laurits Ehlers (/ ˈ eɪ l ər z /, Danish pronunciation: [ˈe̝ðvɑːt ˈlɑwˀʁe̝ts ˈeːlɐs]; 26 March 1863 in Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of rare genetic connective tissue disorders, known collectively as the Ehlers–Danlos syndromes (EDS), which were named, together after Henri-Alexandre Danlos from ...
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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 Ehlers–Danlos Society zebra logo is derived from a common expression heard in medicine, "When you hear hoofbeats behind you, don't expect to see a zebra." [ 8 ] In other words, medical professionals are typically taught to look out for more-common ailments rather than uncommon or rare diagnoses.
Eric Shaun Lynch (March 11, 1975 – September 20, 2014), also known as Eric the Midget and Eric the Actor, [2] was a member of The Howard Stern Show's Wack Pack.Lynch was, at his peak, 3 ft 5 in (1.04 m) tall, [3] weighed 85 lb (39 kg), and had various health issues, including Ehlers–Danlos Syndrome.