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Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [10] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
Ullrich congenital muscular dystrophy (UCMD) is a form of congenital muscular dystrophy.There are two forms: UCMD1 and UCMD2. [4]UCMD1 is associated with variants of type VI collagen, while UCMD2 is associated with variants of type XII collagen.
Almost all women with regular Turner syndrome are sterile, but those with 47,XXX cell lines are typically fertile. [29] Although women with trisomy X have lower IQs than the general population and women with Turner syndrome do not, intellectual disability does not appear to be more common in the mosaic than for non-mosaic Turner's. [30]
Life expectancy in non-congenital late-onset or adult onset DM1 is in the early 50s, [5] with pulmonary complications being the leading cause of death, followed by cardiac complications. [27] DM2 life expectancy has yet to be studied.
Stephanie Turner (1993 [32] – 2017 [33]) third oldest in the US with the same condition, and the first ever to give birth. Turner's two children do not have the disease. She died on March 3, 2017, at age 23. [34] Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was 5 years old as of July 2018. [35]
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Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. [1]
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...