Fragile X Syndrome The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability
What are the symptoms of Fragile X syndrome? - NICHD People with Fragile X have some symptoms in common, including intellectual problems, physical features unique to this syndrome, behavioral challenges, speech and language problems, and sensory issues
How do healthcare providers diagnose Fragile X syndrome? Healthcare providers often use a blood sample to diagnose Fragile X They will take a sample of blood and will send it to a laboratory, which will determine what form of the FMR1 gene is present
Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome
Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) More recently, researchers have identified two disorders—FXPOI and Fragile X-associated tremor ataxia syndrome—that also are associated with changes in the FMR1 gene, but that have features and symptoms vastly different from FXS Women with FXPOI often experience irregular menstrual periods, early infertility, and premature menopause