What risks are associated with fragile X premutation?

Individuals with the fragile X premutation (55-200 CGG repeats) are at risk for a number of health problems, including:

Fragile X-associated tremor/ataxia syndrome (FXTAS): This is a neurodegenerative disorder that typically develops in adults with the premutation. Symptoms of FXTAS can include tremors, ataxia (difficulty with coordination and balance), cognitive impairment, and psychiatric problems.

Fragile X primary ovarian insufficiency (FXPOI): This is a condition in which the ovaries stop working prematurely, leading to infertility. FXPOI can occur in women with the premutation as early as their 20s or 30s.

Autism spectrum disorder (ASD): Children with the premutation have an increased risk of developing ASD, a neurodevelopmental disorder characterized by difficulties with social interaction and communication.

Other medical problems: Individuals with the premutation may also be at increased risk for a number of other medical problems, including anxiety, depression, sleep problems, and immune system disorders.

The risks associated with the fragile X premutation vary from person to person. Some people with the premutation may only have mild symptoms, while others may develop more severe problems. It is important for individuals with the premutation to be aware of the potential risks and to seek medical care if they experience any symptoms.