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Fragile X syndrome (FXS) is a genetic ... A 2013 review stated that life expectancy for FXS was 12 years lower than the general population and that the causes of ...
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
Life expectancy in type IV OI is thought to be close to normal, but in type III it is lower than in the general population. [48] A 2016 study of data in Denmark's National Patient Register found that across all types of OI, all-cause mortality was three times higher, leading to a loss of around seven years in females and nine years in males. [15]
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination ().
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.
The mean epigenetic age of the five pure Syndrome X subjects was 6.7 years (standard error=1.0) which is not significantly different from the mean chronological age of 6.3 years (standard error=1.8). Notably, the oldest pure Syndrome X case had an epigenetic age of 14.5 years which was 3.2 years older than her true chronological age.
The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Sherman theorized that the gene responsible for fragile X syndrome becomes mutated through a two-step process. The first mutation, called the 'premutation', doesn't cause any clinical symptoms. A second mutation was required to convert the 'premutation' into a 'full mutation' capable of causing the clinical symptoms associated with fragile X ...