What Is Fragile X?
6. Neurology and Visual
Fragile X patients have a higher risk of seizures with rates ranging from 13% to 18%. Seizures in these patients tend to be partial, not frequent, and respond well to anti-seizure medications. Some patients with fragile X syndrome may also carry premutation alleles that put them at risk for the development of fragile X associated tremor/ataxia syndrome (FXTAS), which is a neurodegenerative disease.
This is usually seen in more than 50% of male carriers over the age of 70 years old. The tremor generally begins in the sixth decade of life with progression to coordination loss and cognitive decline. Fragile X patients may also have strabismus. Early recognition of this issue is important as management helps prevent amblyopia (lazy eye), which can have a great impact in the quality of life.
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