What is Fragile X?
Fragile X is a genetic disorder caused by a mutation (change in the DNA structure) in the X chromosome. It is a family of three conditions:
- Fragile X Syndrome (FXS) is the most common cause of inherited mental impairment, causing developmental and intellectual disabilities in those affected. It regularly causes some degree of “autistic-like” behaviors. Other common symptoms include ADHD, anxiety and epilepsy. Males are usually more affected than females. Affected females tend to suffer from shyness, social anxiety and learning difficulties..
- Fragile X-associated tremor/ataxia syndrome (FXTAS) is a condition which affects balance, tremor and memory mainly in older male carriers.
- Fragile X-associated primary ovarian insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
About 1 in 151 females and 1 in 468 males carry the fragile X premutation. Approximately 1 in 35 females and 1 of every 42 males fall into the gray zone as carriers.
Why Awareness Is So Important
- So that carriers and those affected receive the most appropriate treatment and therapy.
- So that children are not mis-diagnosed with Autism, Aspergers or other conditions rather than Fragile X.
- Men are mis-diagnosed with Parkinson’s Disease rather than as a Fragile X carrier suffering from FXTAS.
- Women struggle to conceive, or cannot conceive at all. They may be carriers of Fragile X suffering from FXPOI but have not been tested or given the correct genetic counselling and treatment.
How common is Fragile X?
- Approximately 1 in 250 women and 1 in 800 men are carriers of Fragile X and they may suffer from FXTAS or FXPOI.
- Fragile X is the leading inherited cause of intellectual disability worldwide and second only to Down Syndrome as a cause of intellectual disability.
- Fragile X Syndrome is the most common known cause of Autism and autistic type behaviours.
- It is estimated that about 1 in 4,000 males and between 1 in 6,000-8,000 females are affected by the disorder (rather than just being carriers).
How to spread the word?
You can help by telling people about Fragile X
- Inform as many people as you can about Fragile X.
- Use the Share buttons at the bottom of this article and submit and bookmark this page to services that you belong to.
- Download a Fragile X Booklet: show it to friends and family, print out a copy and take a copy to your local doctor.
- Visit the main Fragile X website for your country and download and share their literature – see our links pages