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Fragile X syndrome; ... monitoring is required for metabolic side effects including weight gain ... A 2013 review stated that life expectancy for FXS was 12 years ...
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
Other causes which may cause a permanent delay in development include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1 Deficiency Syndrome; childhood infections such as meningitis or encephalitis, and metabolic disorders such as hypothyroidism.
Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. [3] [8] Pain is usually present in adults, and can worsen with age. [9] As the condition progresses, it may alter a person's life, and hence can also be considered a disability. [10]
Weight fluctuations of five pounds are more are uncommon among men. Experts explain common sudden weight gain causes, what to do, and when to see a doctor. 12 Common Causes of Sudden Weight Gain
Fragile X syndrome is caused by expansion of CGG repeats in the FMR1 gene. In males without fragile X syndrome, the CGG repeat number ranges from 53 to 200 while those affected have greater than 200 repeats of this trinucleotide sequence located at the end of the X chromosome on band Xq28.3.1. [36]
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 .
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.