Traditionally, a carrier of a genetic condition is defined as a person who inherits an altered form of a gene but is asymptomatic or not at risk for nor has symptoms of the condition. However, in Fragile X this is different. Individuals with the Fragile X premutation may be at risk for developing FXTAS, FXPOI or other conditions such as high blood pressure, depression, anxiety, hypothyroidism, chronic pain, and sleep apnea.
Recently, the International Fragile X Premutation Registry was created to facilitate and encourage Fragile X premutation research, including future medication and non-medication treatment and intervention studies that could positively impact your quality of life. Fragile X premutation-associated conditions include Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI).