brain, spinal cord, and nerve disorders
Fragile X–Associated Tremor Ataxia Syndrome
Diagnosis of FXTAS
A doctor's evaluation Genetic testing Sometimes magnetic resonance imaging Fragile X–associated tremor/ataxia syndrome is sometimes missed or mistaken for disorders that cause similar symptoms, such as Parkinson Disease (PD) or If doctors suspect Fragile X–associated tremor/ataxia syndrome, they ask about symptoms in family members, particularly whether grandchildren have intellectual disability or daughters have had early menopause or infertility problems. When doctors examine children with Fragile X syndrome, they should find out whether the grandfathers have any symptoms suggesting Fragile X–associated tremor/ataxia syndrome. Magnetic Resonance Imaging (MRI) (MRI) may be done to check for characteristic abnormalities in the brain. Genetic testing can confirm the diagnosis. Daughters and grandsons of men with Fragile X–associated tremor/ataxia syndrome should have genetic counseling. Daughters can be tested for the premutation so that they can make decisions about whether or not to have children and whether or not to have prenatal testing if pregnancy occurs. 