neurologic disorders
Fragile X–Associated Tremor Ataxia Syndrome (FXTAS)
Symptoms and Signs of FXTAS
FXTAS symptoms become noticeable in late adulthood. The more CGG repeats, the more severe the symptoms and the earlier the onset. Tremor , often misdiagnosed as essential tremor, is a common early symptom of FXTAS. Tremors are usually intention tremors. Patients develop ataxia (which progressively worsens), then Patients with other X chromosome disorders (eg, Klinefelter Syndrome (47,XXY) [XXY karyotype]) may have tremor that mimics essential tremor. Consider FXTAS in patients diagnosed with essential tremor if they develop ataxia or signs of parkinsonism. Dementia begins with loss of short-term memory, slowed thought, and difficulty problem solving. Depression, anxiety, impatience, hostility, and mood lability may develop. Overview of Peripheral Nervous System Disorders is often present, causing loss of sensation and reflexes in the feet. Dysautonomia (eg, Life expectancy after motor symptoms develop ranges from about 5 to 25 years. In women with the premutation, symptoms are usually less severe, possibly because the presence of another X chromosome is protective. These women have an increased risk of early menopause, infertility, and ovarian dysfunction. 