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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 ...
A 2022 report by the Centers for Disease Control and Prevention's National Center for Health Statistics found the average life expectancy in the US was 77.5 years. But the value varies across ...
CDD is a rare condition although >1,000 cases have been reported worldwide; 80-90% of the cases are female [4] While originally classified as an atypical variant of Rett syndrome, CDKL5 Deficiency Disorder (CDD) is an independent disorder and results from a pathogenic variant in a different gene (CDKL5 in CDD; MECP2 in Rett).
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 ]
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]
For paraneoplastic cerebellar degeneration, the average age of onset is 50 years, generally affecting a greater population of males than females. [2] Nutritional and alcoholic cerebellar degeneration, being more prevalent than paraneoplastic cerebellar degeneration, affects individuals with a thiamine deficiency and dipsomaniacs , respectively ...
Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3 ] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).
Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...