About Fragile X

Fragile X syndrome is a genetic condition caused by a full mutation in the FMR1 gene.  Individuals with Fragile X syndrome can often also have autism, adhd, anxiety, sensory disorders and intellectual disability. 

Boys, who inherit one X chromosome from their mother, typically have more significant challenges associated with Fragile X than girls do.  Girls inherit two X chromosomes, which means it is possible that the unaffected X chromosome can compensate for the affected one.  Because of this, some girls are affected as severely as boys,  while others don’t have any symptoms at all.

Fragile X is a complicated genetic condition in that entire generations of a family are affected.  Normally carriers of a genetic condition do not have symptoms.  Fragile X, however, is a group of related conditions associated with the FMR1 gene.  The full mutation of the gene leads to Fragile X syndrome.  Carriers of Fragile X syndrome have what is known as a pre-mutation.  Pre-mutation carriers can also be affected by one of three carrier-related health conditions:

FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome): Symptoms include balance, tremor and memory problems that often occur after age 50 and worsen over time.

FXPOI (Fragile X-Associated Primary Ovarian Insufficiency): Can lead to impaired ovarian function, infertility or early menopause.

FXAND (Fragile X-Associated Neuropsychiatric Disorders):  A newly named condition describing a variety of conditions commonly experienced by pre-mutation carriers of Fragile X that include autoimmune disorders, fibromyalgia, depression, anxiety, chronic pain and sleep disturbances.

Information obtained from the National Fragile X Foundation website.  More detailed information and resources can be found there.