FX Associated Disorders

Fragile X-Associated Disorders
Over one-million Americans carry the Fragile X mutation and have or at risk for developing a Fragile X related disorder.

Fragile X Associated disorders are:
  • Fragile X Syndrome (FXS) Fragile X Syndrome is the most common cause of inherited mental impairment and the leading known genetic cause of autism and autsism spectrum disorders (ASD).  It occurs in both males and females, though males are usually more severely affected.  FXS can cause developmental delay, learning and intellectual disabilities, ADHD, hand-flapping and/or biting, poor eye contact, shyness, anxiety, behavior issues, speech/language delay, rapid, repetitive speech, increased sensitivity to sounds, touch, crowds and texture.
  • Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) FXTAS is an adult onset (over age 50) progressive neurological condition that can cause balance problems (ataxia), intention tremors (shaking when reaching for something but not while resting), memory loss, mood instability or irritability, neuropathy (numbness of extremities), and cognitive decline. Females with FXTAS may also have a predisposition to develop autoimmune disorders such as abnormal thyroid function.  FXTAS is commonly misdiagnosed as Parkinson's, Alzheimer's disease, or a stroke.
  • Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) FXPOI occurs in approximately 22 percent of females with the premutation of Fragile X Syndrome (carriers). It can cause irregular or absent periods, reduced fertility or infertility and premature (early) menopause.
The relationship between Fragile X and other conditions:
Fragile X syndrome provides a unique window into understanding autism, including the role that genes play in autism because it is the most common known single gene cause of autism. Up to one-half of all children with fragile x syndrome also have autism or an autism spectrum disorder.

Research into Fragile X will also help shed light on other medical conditions such as Alzheimer's, Parkinson's, reproductive problems in women and other medical conditions that may have a genetic basis.

As this is an informational page, I wanted to also add a small bit about Fragile X and auto-immune disorders.  Being in a community with many other affected families, we tend to see patterns before researchers.  Thankfully, we have some fantastic FX researchers who listen and notice this patterns along with us.  They are now exploring new links between many auto-immune disorders and those of us that carry the pre-mutation of Fragile X including (though not limited to) Type 1 Diabetes, Celiac Disease, Thyroid Disease, and Fibromyalsia.